Linked Data
dbSNP Id:
rs6461049
gnomAD v2:
7-2017445-C-T
gnomAD v3:
7-1977810-C-T
gnomAD v4:
7-1977810-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.1977810C>T , CM000669.2:g.1977810C>T | GRCh38 |
| NC_000007.13:g.2017445C>T , CM000669.1:g.2017445C>T | GRCh37 |
| NC_000007.12:g.1983971C>T | NCBI36 |
| NG_011518.1:g.260139G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265854.12:c.1505+2643G>A MANE Select | ENSP00000265854.7:n.1505+2643G>A | |
| ENST00000651235.1:c.*4265+2643G>A | ENSP00000498895.1:n.*4265+2643G>A | |
| ENST00000265854.11:c.1505+2643G>A | ENSP00000265854.7:n.1505+2643G>A | |
| ENST00000399654.6:c.1505+2643G>A | ENSP00000382562.2:n.1505+2643G>A | |
| ENST00000402746.5:c.1229+2643G>A | ENSP00000384155.1:n.1229+2643G>A | |
| ENST00000406869.5:c.1505+2643G>A | ENSP00000385334.1:n.1505+2643G>A | |
| ENST00000438959.5:c.506+2643G>A | ENSP00000414877.1:n.506+2643G>A | |
| ENST00000450235.5:c.158+2643G>A | ENSP00000394886.1:n.158+2643G>A | |
| NM_001013836.1:c.1505+2643G>A | NP_001013858.1:n.1505+2643G>A | |
| NM_001013837.1:c.1505+2643G>A | NP_001013859.1:n.1505+2643G>A | |
| NM_001304523.1:c.1505+2643G>A | NP_001291452.1:n.1505+2643G>A | |
| NM_001304524.1:c.1229+2643G>A | NP_001291453.1:n.1229+2643G>A | |
| NM_003550.2:c.1505+2643G>A | NP_003541.2:n.1505+2643G>A | |
| XM_005249877.1:c.1364+2643G>A | XP_005249934.1:n.1364+2643G>A | |
| XM_011515567.1:c.1448+2643G>A | XP_011513869.1:n.1448+2643G>A | |
| XM_011515569.1:c.275+2643G>A | XP_011513871.1:n.275+2643G>A | |
| XM_011515571.1:c.275+2643G>A | XP_011513873.1:n.275+2643G>A | |
| XM_011515569.3:c.539+2643G>A | XP_011513871.2:n.539+2643G>A | |
| XM_017012690.1:c.1697+2643G>A | XP_016868179.1:n.1697+2643G>A | |
| XM_017012691.2:c.275+2643G>A | XP_016868180.1:n.275+2643G>A | |
| XM_024446951.1:c.1448+2643G>A | XP_024302719.1:n.1448+2643G>A | |
| XM_024446952.1:c.1448+2643G>A | XP_024302720.1:n.1448+2643G>A | |
| NM_001013836.2:c.1505+2643G>A MANE Select | NP_001013858.1:n.1505+2643G>A | |
| NM_001013837.2:c.1505+2643G>A | NP_001013859.1:n.1505+2643G>A | |
| NM_001304523.2:c.1505+2643G>A | NP_001291452.1:n.1505+2643G>A | |
| NM_001304524.2:c.1229+2643G>A | NP_001291453.1:n.1229+2643G>A | |
| NM_003550.3:c.1505+2643G>A | NP_003541.2:n.1505+2643G>A |