Linked Data
ClinVar Variation Id:
718335
ClinVar RCV Id:
RCV000891267
dbSNP Id:
rs200867550
ExAC:
9:94486156 C / T
gnomAD v2:
9-94486156-C-T
gnomAD v3:
9-91723874-C-T
gnomAD v4:
9-91723874-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.91723874C>T , CM000671.2:g.91723874C>T | GRCh38 |
| NC_000009.11:g.94486156C>T , CM000671.1:g.94486156C>T | GRCh37 |
| NC_000009.10:g.93525977C>T | NCBI36 |
| NG_008089.1:g.231289G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375708.4:c.2620G>A MANE Select | ENSP00000364860.3:p.Val874Ile | |
| ENST00000375708.3:c.2620G>A | ENSP00000364860.3:p.Val874Ile | |
| ENST00000375715.5:c.1920+280G>A | ENSP00000364867.1:n.1920+280G>A | |
| ENST00000550066.5:n.3088G>A | ||
| NM_004560.3:c.2620G>A | NP_004551.2:p.Val874Ile | |
| XM_005252008.3:c.2200G>A | XP_005252065.1:p.Val734Ile | |
| XM_005252009.3:c.1417G>A | XP_005252066.1:p.Val473Ile | |
| XM_006717121.2:c.2200G>A | XP_006717184.1:p.Val734Ile | |
| XM_011518721.1:c.2200G>A | XP_011517023.1:p.Val734Ile | |
| XM_005252008.4:c.2200G>A | XP_005252065.1:p.Val734Ile | |
| XM_006717121.3:c.2200G>A | XP_006717184.1:p.Val734Ile | |
| XM_017014762.1:c.2611G>A | XP_016870251.1:p.Val871Ile | |
| XM_017014763.1:c.2200G>A | XP_016870252.1:p.Val734Ile | |
| NM_004560.4:c.2620G>A MANE Select | NP_004551.2:p.Val874Ile |