Linked Data
ClinVar Variation Id:
1148887
ClinVar RCV Id:
RCV001488912
dbSNP Id:
rs202213533
ExAC:
9:94486078 C / T
gnomAD v2:
9-94486078-C-T
gnomAD v3:
9-91723796-C-T
gnomAD v4:
9-91723796-C-T
COSMIC:
COSM3908817
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.91723796C>T , CM000671.2:g.91723796C>T | GRCh38 |
| NC_000009.11:g.94486078C>T , CM000671.1:g.94486078C>T | GRCh37 |
| NC_000009.10:g.93525899C>T | NCBI36 |
| NG_008089.1:g.231367G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375708.4:c.2698G>A MANE Select | ENSP00000364860.3:p.Ala900Thr | |
| ENST00000375708.3:c.2698G>A | ENSP00000364860.3:p.Ala900Thr | |
| ENST00000375715.5:c.1920+358G>A | ENSP00000364867.1:n.1920+358G>A | |
| ENST00000550066.5:n.3166G>A | ||
| NM_004560.3:c.2698G>A | NP_004551.2:p.Ala900Thr | |
| XM_005252008.3:c.2278G>A | XP_005252065.1:p.Ala760Thr | |
| XM_005252009.3:c.1495G>A | XP_005252066.1:p.Ala499Thr | |
| XM_006717121.2:c.2278G>A | XP_006717184.1:p.Ala760Thr | |
| XM_011518721.1:c.2278G>A | XP_011517023.1:p.Ala760Thr | |
| XM_005252008.4:c.2278G>A | XP_005252065.1:p.Ala760Thr | |
| XM_006717121.3:c.2278G>A | XP_006717184.1:p.Ala760Thr | |
| XM_017014762.1:c.2689G>A | XP_016870251.1:p.Ala897Thr | |
| XM_017014763.1:c.2278G>A | XP_016870252.1:p.Ala760Thr | |
| NM_004560.4:c.2698G>A MANE Select | NP_004551.2:p.Ala900Thr |