Linked Data
dbSNP Id:
rs771092267
ExAC:
8:145741103 C / T
gnomAD v2:
8-145741103-C-T
gnomAD v3:
8-144515719-C-T
gnomAD v4:
8-144515719-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144515719C>T , CM000670.2:g.144515719C>T | GRCh38 |
| NC_000008.10:g.145741103C>T , CM000670.1:g.145741103C>T | GRCh37 |
| NC_000008.9:g.145711911C>T | NCBI36 |
| NG_016430.1:g.7108G>A | |
| NG_033083.1:g.2755C>T | |
| NG_016430.2:g.7108G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000688394.1:n.20G>A | ||
| ENST00000617875.6:c.1258+45G>A MANE Select | ENSP00000482313.2:n.1258+45G>A | |
| ENST00000532846.2:c.143+45G>A | ||
| ENST00000617875.4:c.1258+45G>A | ENSP00000482313.1:n.1258+45G>A | |
| ENST00000621189.4:c.187+45G>A | ENSP00000483145.1:n.187+45G>A | |
| NM_004260.3:c.1258+45G>A | NP_004251.3:n.1258+45G>A | |
| XM_011517380.1:c.1258+45G>A | XP_011515682.1:n.1258+45G>A | |
| XM_011517381.1:c.1162+45G>A | XP_011515683.1:n.1162+45G>A | |
| XM_011517382.1:c.1258+45G>A | XP_011515684.1:n.1258+45G>A | |
| XM_011517383.1:c.1258+45G>A | XP_011515685.1:n.1258+45G>A | |
| XM_011517384.1:c.1258+45G>A | XP_011515686.1:n.1258+45G>A | |
| XM_011517385.1:c.125+45G>A | XP_011515687.1:n.125+45G>A | |
| XR_928366.1:n.1299+45G>A | ||
| XR_928367.1:n.1299+45G>A | ||
| XR_928368.1:n.1301+45G>A | ||
| XM_011517384.3:c.1258+45G>A | XP_011515686.1:n.1258+45G>A | |
| XM_017013991.2:c.1258+45G>A | XP_016869480.1:n.1258+45G>A | |
| XM_017013992.2:c.1258+45G>A | XP_016869481.1:n.1258+45G>A | |
| XM_017013993.2:c.1258+45G>A | XP_016869482.1:n.1258+45G>A | |
| XM_017013994.2:c.1162+45G>A | XP_016869483.1:n.1162+45G>A | |
| XM_017013995.2:c.1258+45G>A | XP_016869484.1:n.1258+45G>A | |
| XM_017013996.2:c.1258+45G>A | XP_016869485.1:n.1258+45G>A | |
| XM_017013997.2:c.1258+45G>A | XP_016869486.1:n.1258+45G>A | |
| XM_017013998.1:c.1258+45G>A | XP_016869487.1:n.1258+45G>A | |
| XM_017013999.2:c.1258+45G>A | XP_016869488.1:n.1258+45G>A | |
| XM_017014000.1:c.125+45G>A | XP_016869489.1:n.125+45G>A | |
| XM_017014001.2:c.125+45G>A | XP_016869490.1:n.125+45G>A | |
| XR_001745626.2:n.1295+45G>A | ||
| XR_001745627.2:n.1295+45G>A | ||
| XR_001745628.2:n.1295+45G>A | ||
| XR_001745629.2:n.1295+45G>A | ||
| XR_001745630.2:n.1295+45G>A | ||
| NM_004260.4:c.1258+45G>A MANE Select | NP_004251.4:n.1258+45G>A |