Linked Data
ClinVar Variation Id:
2787939
ClinVar RCV Id:
RCV003671747
dbSNP Id:
rs1180786358
gnomAD v2:
9-94485987-T-A
gnomAD v4:
9-91723705-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.91723705T>A , CM000671.2:g.91723705T>A | GRCh38 |
| NC_000009.11:g.94485987T>A , CM000671.1:g.94485987T>A | GRCh37 |
| NC_000009.10:g.93525808T>A | NCBI36 |
| NG_008089.1:g.231458A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375708.4:c.2789A>T MANE Select | ENSP00000364860.3:p.Asp930Val | |
| ENST00000375708.3:c.2789A>T | ENSP00000364860.3:p.Asp930Val | |
| ENST00000375715.5:c.1920+449A>T | ENSP00000364867.1:n.1920+449A>T | |
| ENST00000550066.5:n.3257A>T | ||
| NM_004560.3:c.2789A>T | NP_004551.2:p.Asp930Val | |
| XM_005252008.3:c.2369A>T | XP_005252065.1:p.Asp790Val | |
| XM_005252009.3:c.1586A>T | XP_005252066.1:p.Asp529Val | |
| XM_006717121.2:c.2369A>T | XP_006717184.1:p.Asp790Val | |
| XM_011518721.1:c.2369A>T | XP_011517023.1:p.Asp790Val | |
| XM_005252008.4:c.2369A>T | XP_005252065.1:p.Asp790Val | |
| XM_006717121.3:c.2369A>T | XP_006717184.1:p.Asp790Val | |
| XM_017014762.1:c.2780A>T | XP_016870251.1:p.Asp927Val | |
| XM_017014763.1:c.2369A>T | XP_016870252.1:p.Asp790Val | |
| NM_004560.4:c.2789A>T MANE Select | NP_004551.2:p.Asp930Val |