Linked Data
dbSNP Id:
rs992732083
gnomAD v2:
9-94486267-A-C
gnomAD v3:
9-91723985-A-C
gnomAD v4:
9-91723985-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.91723985A>C , CM000671.2:g.91723985A>C | GRCh38 |
| NC_000009.11:g.94486267A>C , CM000671.1:g.94486267A>C | GRCh37 |
| NC_000009.10:g.93526088A>C | NCBI36 |
| NG_008089.1:g.231178T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375708.4:c.2509T>G MANE Select | ENSP00000364860.3:p.Phe837Val | |
| ENST00000375708.3:c.2509T>G | ENSP00000364860.3:p.Phe837Val | |
| ENST00000375715.5:c.1920+169T>G | ENSP00000364867.1:n.1920+169T>G | |
| ENST00000550066.5:n.2977T>G | ||
| NM_004560.3:c.2509T>G | NP_004551.2:p.Phe837Val | |
| XM_005252008.3:c.2089T>G | XP_005252065.1:p.Phe697Val | |
| XM_005252009.3:c.1306T>G | XP_005252066.1:p.Phe436Val | |
| XM_006717121.2:c.2089T>G | XP_006717184.1:p.Phe697Val | |
| XM_011518721.1:c.2089T>G | XP_011517023.1:p.Phe697Val | |
| XM_005252008.4:c.2089T>G | XP_005252065.1:p.Phe697Val | |
| XM_006717121.3:c.2089T>G | XP_006717184.1:p.Phe697Val | |
| XM_017014762.1:c.2500T>G | XP_016870251.1:p.Phe834Val | |
| XM_017014763.1:c.2089T>G | XP_016870252.1:p.Phe697Val | |
| NM_004560.4:c.2509T>G MANE Select | NP_004551.2:p.Phe837Val |