Linked Data
dbSNP Id:
rs3794260
gnomAD v2:
12-108598274-G-A
gnomAD v3:
12-108204497-G-A
gnomAD v4:
12-108204497-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.108204497G>A , CM000674.2:g.108204497G>A | GRCh38 |
| NC_000012.11:g.108598274G>A , CM000674.1:g.108598274G>A | GRCh37 |
| NC_000012.10:g.107122404G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000547525.6:c.383-1792G>A MANE Select | ENSP00000448047.1:n.383-1792G>A | |
| ENST00000332082.8:c.383-1792G>A | ENSP00000331933.4:n.383-1792G>A | |
| ENST00000547525.5:c.383-1792G>A | ENSP00000448047.1:n.383-1792G>A | |
| ENST00000549903.1:c.383-1792G>A | ENSP00000447272.1:n.383-1792G>A | |
| ENST00000551638.5:c.-77-1792G>A | ENSP00000446744.1:n.-77-1792G>A | |
| NM_001304447.1:c.383-1792G>A | NP_001291376.1:n.383-1792G>A | |
| NM_014653.3:c.383-1792G>A | NP_055468.2:n.383-1792G>A | |
| XM_011539015.1:c.383-1792G>A | XP_011537317.1:n.383-1792G>A | |
| XM_011539016.1:c.383-1792G>A | XP_011537318.1:n.383-1792G>A | |
| XM_011539017.1:c.383-1792G>A | XP_011537319.1:n.383-1792G>A | |
| XM_011539018.1:c.383-1792G>A | XP_011537320.1:n.383-1792G>A | |
| XM_011539019.1:c.383-1792G>A | XP_011537321.1:n.383-1792G>A | |
| XM_011539020.1:c.383-1792G>A | XP_011537322.1:n.383-1792G>A | |
| XM_011539021.1:c.383-1792G>A | XP_011537323.1:n.383-1792G>A | |
| XM_011539022.1:c.382+8283G>A | XP_011537324.1:n.382+8283G>A | |
| XM_011539023.1:c.383-1792G>A | XP_011537325.1:n.383-1792G>A | |
| XR_944841.1:n.1675-1792G>A | ||
| XR_945322.1:n.233-13478C>T | ||
| XM_017020243.1:c.383-1792G>A | XP_016875732.1:n.383-1792G>A | |
| XM_017020244.1:c.383-1792G>A | XP_016875733.1:n.383-1792G>A | |
| XM_017020245.1:c.383-1792G>A | XP_016875734.1:n.383-1792G>A | |
| XM_017020246.2:c.383-1792G>A | XP_016875735.1:n.383-1792G>A | |
| XM_017020247.1:c.383-1792G>A | XP_016875736.1:n.383-1792G>A | |
| XM_017020248.1:c.383-1792G>A | XP_016875737.1:n.383-1792G>A | |
| XM_017020249.1:c.382+8283G>A | XP_016875738.1:n.382+8283G>A | |
| XM_017020250.2:c.382+8283G>A | XP_016875739.1:n.382+8283G>A | |
| XM_017020251.2:c.382+8283G>A | XP_016875740.1:n.382+8283G>A | |
| XM_017020252.1:c.382+8283G>A | XP_016875741.1:n.382+8283G>A | |
| XR_001748924.2:n.1294-1792G>A | ||
| XR_001748925.2:n.1046-1792G>A | ||
| XR_001748926.2:n.1293+8283G>A | ||
| XR_001749307.1:n.130-13478C>T | ||
| XR_001749308.1:n.322-13478C>T | ||
| XR_001749309.1:n.138-13478C>T | ||
| XR_001749310.1:n.130-13478C>T | ||
| XR_001749311.1:n.130-13478C>T | ||
| XR_001749312.1:n.130-13478C>T | ||
| XR_001749313.1:n.130-13478C>T | ||
| XR_001749314.1:n.130-13478C>T | ||
| XR_944841.2:n.1675-1792G>A | ||
| NM_014653.4:c.383-1792G>A MANE Select | NP_055468.2:n.383-1792G>A | |
| NM_001304447.2:c.383-1792G>A | NP_001291376.1:n.383-1792G>A |