Linked Data
dbSNP Id:
rs1276961431
gnomAD v2:
15-45003475-A-C
gnomAD v3:
15-44711277-A-C
gnomAD v4:
15-44711277-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44711277A>C , CM000677.2:g.44711277A>C | GRCh38 |
| NC_000015.9:g.45003475A>C , CM000677.1:g.45003475A>C | GRCh37 |
| NC_000015.8:g.42790767A>C | NCBI36 |
| NG_012920.1:g.4791A>C | |
| NG_012920.2:g.4801A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682850.1:c.-511T>G MANE Select | ENSP00000508024.1:n.-511T>G | |
| ENST00000558573.1:n.40T>G | ||
| XM_011521338.1:c.-511T>G | XP_011519640.1:n.-511T>G | |
| XM_011521339.1:c.-392T>G | XP_011519641.1:n.-392T>G | |
| XM_011521340.1:c.-333T>G | XP_011519642.1:n.-333T>G | |
| XM_011521343.1:c.-595T>G | XP_011519645.1:n.-595T>G | |
| XM_011521345.1:c.-566T>G | XP_011519647.1:n.-566T>G | |
| XM_011521338.3:c.-511T>G | XP_011519640.1:n.-511T>G | |
| XM_011521339.3:c.-392T>G | XP_011519641.1:n.-392T>G | |
| XM_011521340.3:c.-333T>G | XP_011519642.1:n.-333T>G | |
| XM_011521343.3:c.-595T>G | XP_011519645.1:n.-595T>G | |
| XM_011521345.3:c.-566T>G | XP_011519647.1:n.-566T>G | |
| NM_001387260.1:c.-76+55T>G | NP_001374189.1:n.-76+55T>G | |
| NM_001387261.1:c.-333T>G | NP_001374190.1:n.-333T>G | |
| NM_001387262.1:c.-601T>G | NP_001374191.1:n.-601T>G | |
| NM_001387263.1:c.-511T>G MANE Select | NP_001374192.1:n.-511T>G |