Linked Data
dbSNP Id:
rs184090841
gnomAD v2:
12-100274573-T-C
gnomAD v3:
12-99880795-T-C
gnomAD v4:
12-99880795-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.99880795T>C , CM000674.2:g.99880795T>C | GRCh38 |
| NC_000012.11:g.100274573T>C , CM000674.1:g.100274573T>C | GRCh37 |
| NC_000012.10:g.98798704T>C | NCBI36 |
| NG_029860.1:g.108860A>G | |
| NG_029860.2:g.108860A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683438.2:c.135-55406A>G MANE Select | ENSP00000508105.1:n.135-55406A>G | |
| ENST00000547010.5:c.-133+103309A>G | ENSP00000448512.1:n.-133+103309A>G | |
| ENST00000547776.6:c.135-55406A>G | ENSP00000449629.2:n.135-55406A>G | |
| ENST00000549866.5:c.135-55406A>G | ENSP00000449894.1:n.135-55406A>G | |
| NM_152788.4:c.135-55406A>G | NP_690001.3:n.135-55406A>G | |
| XM_005269028.3:c.135-55406A>G | XP_005269085.1:n.135-55406A>G | |
| XM_005269029.3:c.135-55406A>G | XP_005269086.1:n.135-55406A>G | |
| XM_006719504.2:c.135-55406A>G | XP_006719567.1:n.135-55406A>G | |
| XM_006719505.2:c.135-55406A>G | XP_006719568.1:n.135-55406A>G | |
| XM_006719506.2:c.135-55406A>G | XP_006719569.1:n.135-55406A>G | |
| XM_006719507.2:c.135-55406A>G | XP_006719570.1:n.135-55406A>G | |
| XM_006719508.2:c.135-55406A>G | XP_006719571.1:n.135-55406A>G | |
| XM_006719509.2:c.135-55406A>G | XP_006719572.1:n.135-55406A>G | |
| XM_006719510.2:c.135-55406A>G | XP_006719573.1:n.135-55406A>G | |
| XM_006719511.2:c.135-55406A>G | XP_006719574.1:n.135-55406A>G | |
| XM_006719512.2:c.135-55406A>G | XP_006719575.1:n.135-55406A>G | |
| XM_006719513.2:c.135-55406A>G | XP_006719576.1:n.135-55406A>G | |
| XM_006719514.2:c.135-55406A>G | XP_006719577.1:n.135-55406A>G | |
| XM_011538570.1:c.135-55406A>G | XP_011536872.1:n.135-55406A>G | |
| XM_011538571.1:c.135-55406A>G | XP_011536873.1:n.135-55406A>G | |
| XM_011538572.1:c.135-55406A>G | XP_011536874.1:n.135-55406A>G | |
| XR_944628.1:n.625-55406A>G | ||
| XR_944629.1:n.625-55406A>G | ||
| NM_001352185.1:c.135-55406A>G | NP_001339114.1:n.135-55406A>G | |
| NM_001352186.1:c.135-55406A>G | NP_001339115.1:n.135-55406A>G | |
| NM_001352187.1:c.135-55406A>G | NP_001339116.1:n.135-55406A>G | |
| NM_001352188.1:c.135-55406A>G | NP_001339117.1:n.135-55406A>G | |
| XM_005269029.5:c.135-55406A>G | XP_005269086.1:n.135-55406A>G | |
| XM_006719504.4:c.135-55406A>G | XP_006719567.1:n.135-55406A>G | |
| XM_006719505.4:c.135-55406A>G | XP_006719568.1:n.135-55406A>G | |
| XM_006719507.4:c.135-55406A>G | XP_006719570.1:n.135-55406A>G | |
| XM_006719508.4:c.135-55406A>G | XP_006719571.1:n.135-55406A>G | |
| XM_006719510.4:c.135-55406A>G | XP_006719573.1:n.135-55406A>G | |
| XM_006719512.4:c.135-55406A>G | XP_006719575.1:n.135-55406A>G | |
| XM_006719513.4:c.135-55406A>G | XP_006719576.1:n.135-55406A>G | |
| XM_006719514.4:c.135-55406A>G | XP_006719577.1:n.135-55406A>G | |
| XM_011538571.3:c.135-55406A>G | XP_011536873.1:n.135-55406A>G | |
| XM_017019652.2:c.135-55406A>G | XP_016875141.1:n.135-55406A>G | |
| XM_017019653.2:c.135-55406A>G | XP_016875142.1:n.135-55406A>G | |
| XM_017019654.2:c.135-55406A>G | XP_016875143.1:n.135-55406A>G | |
| XM_017019655.2:c.135-55406A>G | XP_016875144.1:n.135-55406A>G | |
| XM_017019656.2:c.135-55406A>G | XP_016875145.1:n.135-55406A>G | |
| XM_017019657.2:c.135-55406A>G | XP_016875146.1:n.135-55406A>G | |
| XM_017019658.2:c.135-55406A>G | XP_016875147.1:n.135-55406A>G | |
| XM_024449062.1:c.-1222-55406A>G | XP_024304830.1:n.-1222-55406A>G | |
| XR_001748815.2:n.671-55406A>G | ||
| NM_001352186.2:c.135-55406A>G MANE Select | NP_001339115.1:n.135-55406A>G |