Linked Data
ClinVar Variation Id:
367511
dbSNP Id:
rs142926399
ExAC:
9:94495477 C / T
gnomAD v2:
9-94495477-C-T
gnomAD v3:
9-91733195-C-T
gnomAD v4:
9-91733195-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.91733195C>T , CM000671.2:g.91733195C>T | GRCh38 |
| NC_000009.11:g.94495477C>T , CM000671.1:g.94495477C>T | GRCh37 |
| NC_000009.10:g.93535298C>T | NCBI36 |
| NG_008089.1:g.221968G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375708.4:c.864G>A MANE Select | ENSP00000364860.3:p.Ala288= | |
| ENST00000375708.3:c.864G>A | ENSP00000364860.3:p.Ala288= | |
| ENST00000375715.5:c.444G>A | ENSP00000364867.1:p.Ala148= | |
| ENST00000550066.5:n.1332G>A | ||
| NM_004560.3:c.864G>A | NP_004551.2:p.Ala288= | |
| XM_005252008.3:c.444G>A | XP_005252065.1:p.Ala148= | |
| XM_006717121.2:c.444G>A | XP_006717184.1:p.Ala148= | |
| XM_011518721.1:c.444G>A | XP_011517023.1:p.Ala148= | |
| NM_001318204.1:c.864G>A | NP_001305133.1:p.Ala288= | |
| XM_005252008.4:c.444G>A | XP_005252065.1:p.Ala148= | |
| XM_006717121.3:c.444G>A | XP_006717184.1:p.Ala148= | |
| XM_017014762.1:c.855G>A | XP_016870251.1:p.Ala285= | |
| XM_017014763.1:c.444G>A | XP_016870252.1:p.Ala148= | |
| XR_001746315.1:n.1107G>A | ||
| NM_004560.4:c.864G>A MANE Select | NP_004551.2:p.Ala288= | |
| NM_001318204.2:c.864G>A | NP_001305133.1:p.Ala288= |