Linked Data
ClinVar Variation Id:
7309
ClinVar RCV Id:
RCV000007732
dbSNP Id:
rs121909085
gnomAD v4:
9-91724334-C-T
PubMed:
PMID:10932187
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.91724334C>T , CM000671.2:g.91724334C>T | GRCh38 |
| NC_000009.11:g.94486616C>T , CM000671.1:g.94486616C>T | GRCh37 |
| NC_000009.10:g.93526437C>T | NCBI36 |
| NG_008089.1:g.230829G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375708.4:c.2160G>A MANE Select | ENSP00000364860.3:p.Trp720Ter | |
| ENST00000375708.3:c.2160G>A | ENSP00000364860.3:p.Trp720Ter | |
| ENST00000375715.5:c.1740G>A | ENSP00000364867.1:p.Trp580Ter | |
| ENST00000550066.5:n.2628G>A | ||
| NM_004560.3:c.2160G>A | NP_004551.2:p.Trp720Ter | |
| XM_005252008.3:c.1740G>A | XP_005252065.1:p.Trp580Ter | |
| XM_005252009.3:c.957G>A | XP_005252066.1:p.Trp319Ter | |
| XM_006717121.2:c.1740G>A | XP_006717184.1:p.Trp580Ter | |
| XM_011518721.1:c.1740G>A | XP_011517023.1:p.Trp580Ter | |
| XM_005252008.4:c.1740G>A | XP_005252065.1:p.Trp580Ter | |
| XM_006717121.3:c.1740G>A | XP_006717184.1:p.Trp580Ter | |
| XM_017014762.1:c.2151G>A | XP_016870251.1:p.Trp717Ter | |
| XM_017014763.1:c.1740G>A | XP_016870252.1:p.Trp580Ter | |
| NM_004560.4:c.2160G>A MANE Select | NP_004551.2:p.Trp720Ter |