Linked Data
ClinVar Variation Id:
2787178
ClinVar RCV Id:
RCV003660612
dbSNP Id:
rs534257582
ExAC:
6:15533464 C / G
gnomAD v2:
6-15533464-C-G
gnomAD v3:
6-15533233-C-G
gnomAD v4:
6-15533233-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.15533233C>G , CM000668.2:g.15533233C>G | GRCh38 |
| NC_000006.11:g.15533464C>G , CM000668.1:g.15533464C>G | GRCh37 |
| NC_000006.10:g.15641443C>G | NCBI36 |
| NG_009309.1:g.134808G>C , LRG_588:g.134808G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344537.10:c.667+7G>C MANE Select | ENSP00000341680.6:n.667+7G>C | |
| ENST00000338950.9:c.667+7G>C | ENSP00000344718.5:n.667+7G>C | |
| ENST00000344537.9:c.667+7G>C | ENSP00000341680.5:n.667+7G>C | |
| ENST00000355917.7:c.616+7G>C | ENSP00000348183.4:n.616+7G>C | |
| ENST00000462989.6:c.199+7G>C | ENSP00000427239.1:n.199+7G>C | |
| ENST00000506844.1:c.*665+7G>C | ENSP00000424202.1:n.*665+7G>C | |
| ENST00000509674.1:c.118+7G>C | ENSP00000421797.1:n.118+7G>C | |
| ENST00000510395.5:c.*577+7G>C | ENSP00000424685.1:n.*577+7G>C | |
| ENST00000511762.2:c.562+7G>C | ENSP00000427473.2:n.562+7G>C | |
| ENST00000513680.5:c.*669+3G>C | ENSP00000424357.1:n.*669+3G>C | |
| ENST00000514651.1:n.308+7G>C | ||
| ENST00000515875.5:c.620+3G>C | ENSP00000425495.1:n.620+3G>C | |
| ENST00000622898.4:c.562+7G>C | ENSP00000481997.1:n.562+7G>C | |
| NM_001271667.1:c.424+7G>C | NP_001258596.1:n.424+7G>C | |
| NM_001271668.1:c.616+7G>C | NP_001258597.1:n.616+7G>C | |
| NM_001271669.1:c.562+7G>C | NP_001258598.1:n.562+7G>C | |
| NM_032122.4:c.667+7G>C , LRG_588t1:c.667+7G>C | NP_115498.2:n.667+7G>C | |
| NM_183040.2:c.667+7G>C , LRG_588t2:c.667+7G>C | NP_898861.1:n.667+7G>C | |
| NR_036448.1:n.995+7G>C | ||
| XM_005249447.3:c.628+7G>C | XP_005249504.1:n.628+7G>C | |
| XM_011514936.1:c.577+7G>C | XP_011513238.1:n.577+7G>C | |
| XM_011514937.1:c.199+7G>C | XP_011513239.1:n.199+7G>C | |
| XM_005249447.4:c.628+7G>C | XP_005249504.1:n.628+7G>C | |
| XM_011514936.3:c.577+7G>C | XP_011513238.1:n.577+7G>C | |
| XM_011514937.2:c.199+7G>C | XP_011513239.1:n.199+7G>C | |
| XM_017011348.1:c.217+7G>C | XP_016866837.1:n.217+7G>C | |
| XM_017011349.1:c.214+7G>C | XP_016866838.1:n.214+7G>C | |
| XM_024446567.1:c.268+7G>C | XP_024302335.1:n.268+7G>C | |
| XR_001743795.1:n.4354-553C>G | ||
| NM_032122.5:c.667+7G>C MANE Select | NP_115498.2:n.667+7G>C | |
| NR_036448.2:n.965+7G>C | ||
| NM_001271667.2:c.424+7G>C | NP_001258596.1:n.424+7G>C | |
| NM_001271668.2:c.616+7G>C | NP_001258597.1:n.616+7G>C | |
| NM_001271669.2:c.562+7G>C | NP_001258598.1:n.562+7G>C | |
| NR_036448.3:n.965+7G>C |