Linked Data
dbSNP Id:
rs483610
gnomAD v2:
12-99334529-C-T
gnomAD v3:
12-98940751-C-T
gnomAD v4:
12-98940751-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.98940751C>T , CM000674.2:g.98940751C>T | GRCh38 |
| NC_000012.11:g.99334529C>T , CM000674.1:g.99334529C>T | GRCh37 |
| NC_000012.10:g.97858660C>T | NCBI36 |
| NG_029860.1:g.1048904G>A | |
| NG_029860.2:g.1048904G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000683438.2:c.2779-108615G>A MANE Select | ENSP00000508105.1:n.2779-108615G>A | |
| ENST00000546568.5:c.457-108615G>A | ENSP00000448205.1:n.457-108615G>A | |
| ENST00000546960.5:c.457-108615G>A | ENSP00000447839.1:n.457-108615G>A | |
| ENST00000547010.5:c.1507-108615G>A | ENSP00000448512.1:n.1507-108615G>A | |
| ENST00000547446.5:c.364-108615G>A | ENSP00000450015.1:n.364-108615G>A | |
| ENST00000547776.6:c.2779-108615G>A | ENSP00000449629.2:n.2779-108615G>A | |
| ENST00000549025.6:c.285+112406G>A | ENSP00000447312.2:n.285+112406G>A | |
| ENST00000549493.6:c.457-108615G>A | ENSP00000448203.2:n.457-108615G>A | |
| ENST00000549558.6:c.457-108615G>A | ENSP00000448993.2:n.457-108615G>A | |
| ENST00000550693.6:c.457-108615G>A | ENSP00000447999.2:n.457-108615G>A | |
| ENST00000550778.5:c.594-108615G>A | ||
| ENST00000552245.5:n.680-108615G>A | ||
| NM_001204066.1:c.285+112406G>A | NP_001190995.1:n.285+112406G>A | |
| NM_001204067.1:c.364-108615G>A | NP_001190996.1:n.364-108615G>A | |
| NM_001204068.1:c.457-108615G>A | NP_001190997.1:n.457-108615G>A | |
| NM_001204069.1:c.457-108615G>A | NP_001190998.1:n.457-108615G>A | |
| NM_001204070.1:c.457-108615G>A | NP_001190999.1:n.457-108615G>A | |
| NM_020140.3:c.457-108615G>A | NP_064525.1:n.457-108615G>A | |
| NM_152788.4:c.2779-108615G>A | NP_690001.3:n.2779-108615G>A | |
| NM_181670.3:c.457-108615G>A | NP_858056.2:n.457-108615G>A | |
| XM_005269028.3:c.2779-108615G>A | XP_005269085.1:n.2779-108615G>A | |
| XM_005269029.3:c.2767-108615G>A | XP_005269086.1:n.2767-108615G>A | |
| XM_006719504.2:c.2779-108615G>A | XP_006719567.1:n.2779-108615G>A | |
| XM_006719505.2:c.2779-108615G>A | XP_006719568.1:n.2779-108615G>A | |
| XM_006719506.2:c.2779-108615G>A | XP_006719569.1:n.2779-108615G>A | |
| XM_006719507.2:c.2779-108615G>A | XP_006719570.1:n.2779-108615G>A | |
| XM_006719508.2:c.2779-108615G>A | XP_006719571.1:n.2779-108615G>A | |
| XM_006719509.2:c.2779-108615G>A | XP_006719572.1:n.2779-108615G>A | |
| XM_006719510.2:c.2779-108615G>A | XP_006719573.1:n.2779-108615G>A | |
| XM_006719511.2:c.2779-108615G>A | XP_006719574.1:n.2779-108615G>A | |
| XM_006719512.2:c.2779-108615G>A | XP_006719575.1:n.2779-108615G>A | |
| XM_006719513.2:c.2779-108615G>A | XP_006719576.1:n.2779-108615G>A | |
| XM_006719514.2:c.2767-108615G>A | XP_006719577.1:n.2767-108615G>A | |
| XM_011538570.1:c.2779-108615G>A | XP_011536872.1:n.2779-108615G>A | |
| XM_011538571.1:c.2779-108615G>A | XP_011536873.1:n.2779-108615G>A | |
| XM_011538572.1:c.2638-108615G>A | XP_011536874.1:n.2638-108615G>A | |
| XR_944628.1:n.3269-108615G>A | ||
| XR_944629.1:n.3269-108615G>A | ||
| NM_001352185.1:c.2779-108615G>A | NP_001339114.1:n.2779-108615G>A | |
| NM_001352186.1:c.2779-108615G>A | NP_001339115.1:n.2779-108615G>A | |
| NM_001352187.1:c.2779-108615G>A | NP_001339116.1:n.2779-108615G>A | |
| NM_001352188.1:c.2779-108615G>A | NP_001339117.1:n.2779-108615G>A | |
| NM_001352189.1:c.364-108615G>A | NP_001339118.1:n.364-108615G>A | |
| NM_001352190.1:c.364-108615G>A | NP_001339119.1:n.364-108615G>A | |
| NM_001352191.1:c.286-108615G>A | NP_001339120.1:n.286-108615G>A | |
| NM_001352192.1:c.286-108615G>A | NP_001339121.1:n.286-108615G>A | |
| NM_001352193.1:c.286-108615G>A | NP_001339122.1:n.286-108615G>A | |
| NM_001352194.1:c.456+112406G>A | NP_001339123.1:n.456+112406G>A | |
| NM_001352195.1:c.457-108615G>A | NP_001339124.1:n.457-108615G>A | |
| NM_001352196.1:c.457-108615G>A | NP_001339125.1:n.457-108615G>A | |
| NM_001352197.1:c.457-108615G>A | NP_001339126.1:n.457-108615G>A | |
| NM_001352198.1:c.457-108615G>A | NP_001339127.1:n.457-108615G>A | |
| NM_001352199.1:c.457-108615G>A | NP_001339128.1:n.457-108615G>A | |
| NM_001352200.1:c.457-108615G>A | NP_001339129.1:n.457-108615G>A | |
| NM_001352201.1:c.456+112406G>A | NP_001339130.1:n.456+112406G>A | |
| NM_001352202.1:c.457-108615G>A | NP_001339131.1:n.457-108615G>A | |
| NM_001352203.1:c.456+112406G>A | NP_001339132.1:n.456+112406G>A | |
| NM_001352204.1:c.457-108615G>A | NP_001339133.1:n.457-108615G>A | |
| NM_001352205.1:c.457-108615G>A | NP_001339134.1:n.457-108615G>A | |
| NM_001352206.1:c.457-108615G>A | NP_001339135.1:n.457-108615G>A | |
| XM_005269029.5:c.2767-108615G>A | XP_005269086.1:n.2767-108615G>A | |
| XM_006719504.4:c.2779-108615G>A | XP_006719567.1:n.2779-108615G>A | |
| XM_006719505.4:c.2779-108615G>A | XP_006719568.1:n.2779-108615G>A | |
| XM_006719507.4:c.2779-108615G>A | XP_006719570.1:n.2779-108615G>A | |
| XM_006719508.4:c.2779-108615G>A | XP_006719571.1:n.2779-108615G>A | |
| XM_006719510.4:c.2779-108615G>A | XP_006719573.1:n.2779-108615G>A | |
| XM_006719512.4:c.2779-108615G>A | XP_006719575.1:n.2779-108615G>A | |
| XM_006719513.4:c.2779-108615G>A | XP_006719576.1:n.2779-108615G>A | |
| XM_006719514.4:c.2767-108615G>A | XP_006719577.1:n.2767-108615G>A | |
| XM_011538571.3:c.2779-108615G>A | XP_011536873.1:n.2779-108615G>A | |
| XM_017019652.2:c.2767-108615G>A | XP_016875141.1:n.2767-108615G>A | |
| XM_017019653.2:c.2779-108615G>A | XP_016875142.1:n.2779-108615G>A | |
| XM_017019654.2:c.2767-108615G>A | XP_016875143.1:n.2767-108615G>A | |
| XM_017019655.2:c.2779-108615G>A | XP_016875144.1:n.2779-108615G>A | |
| XM_017019656.2:c.2779-108615G>A | XP_016875145.1:n.2779-108615G>A | |
| XM_017019657.2:c.2779-108615G>A | XP_016875146.1:n.2779-108615G>A | |
| XM_017019658.2:c.2779-108615G>A | XP_016875147.1:n.2779-108615G>A | |
| XM_024449060.1:c.1519-108615G>A | XP_024304828.1:n.1519-108615G>A | |
| XM_024449061.1:c.1675-108615G>A | XP_024304829.1:n.1675-108615G>A | |
| XM_024449062.1:c.1519-108615G>A | XP_024304830.1:n.1519-108615G>A | |
| XM_024449063.1:c.1519-108615G>A | XP_024304831.1:n.1519-108615G>A | |
| XM_024449064.1:c.670-108615G>A | XP_024304832.1:n.670-108615G>A | |
| XM_024449065.1:c.364-108615G>A | XP_024304833.1:n.364-108615G>A | |
| XM_024449066.1:c.457-108615G>A | XP_024304834.1:n.457-108615G>A | |
| XM_024449067.1:c.457-108615G>A | XP_024304835.1:n.457-108615G>A | |
| XM_024449068.1:c.457-108615G>A | XP_024304836.1:n.457-108615G>A | |
| XM_024449069.1:c.286-108615G>A | XP_024304837.1:n.286-108615G>A | |
| XM_024449070.1:c.286-108615G>A | XP_024304838.1:n.286-108615G>A | |
| XR_001748815.2:n.3365+15603G>A | ||
| NM_001204066.2:c.285+112406G>A | NP_001190995.1:n.285+112406G>A | |
| NM_001204068.2:c.457-108615G>A | NP_001190997.1:n.457-108615G>A | |
| NM_001204069.2:c.457-108615G>A | NP_001190998.1:n.457-108615G>A | |
| NM_001204070.2:c.457-108615G>A | NP_001190999.1:n.457-108615G>A | |
| NM_001352191.2:c.286-108615G>A | NP_001339120.1:n.286-108615G>A | |
| NM_001352192.2:c.286-108615G>A | NP_001339121.1:n.286-108615G>A | |
| NM_001352193.2:c.286-108615G>A | NP_001339122.1:n.286-108615G>A | |
| NM_001352194.2:c.456+112406G>A | NP_001339123.1:n.456+112406G>A | |
| NM_001352195.2:c.457-108615G>A | NP_001339124.1:n.457-108615G>A | |
| NM_001352198.2:c.457-108615G>A | NP_001339127.1:n.457-108615G>A | |
| NM_001352199.2:c.457-108615G>A | NP_001339128.1:n.457-108615G>A | |
| NM_001352200.2:c.457-108615G>A | NP_001339129.1:n.457-108615G>A | |
| NM_001352201.2:c.456+112406G>A | NP_001339130.1:n.456+112406G>A | |
| NM_001352202.2:c.457-108615G>A | NP_001339131.1:n.457-108615G>A | |
| NM_001352203.2:c.456+112406G>A | NP_001339132.1:n.456+112406G>A | |
| NM_001352204.2:c.457-108615G>A | NP_001339133.1:n.457-108615G>A | |
| NM_001352205.2:c.457-108615G>A | NP_001339134.1:n.457-108615G>A | |
| NM_001352206.2:c.457-108615G>A | NP_001339135.1:n.457-108615G>A | |
| NM_181670.4:c.457-108615G>A | NP_858056.2:n.457-108615G>A | |
| NM_001204067.2:c.364-108615G>A | NP_001190996.1:n.364-108615G>A | |
| NM_001352186.2:c.2779-108615G>A MANE Select | NP_001339115.1:n.2779-108615G>A | |
| NM_001352196.2:c.457-108615G>A | NP_001339125.1:n.457-108615G>A | |
| NM_001352197.2:c.457-108615G>A | NP_001339126.1:n.457-108615G>A | |
| NM_020140.4:c.457-108615G>A | NP_064525.1:n.457-108615G>A |