Linked Data
dbSNP Id:
rs782320992
ExAC:
8:145639729 C / T
gnomAD v2:
8-145639729-C-T
gnomAD v3:
8-144414345-C-T
gnomAD v4:
8-144414345-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144414345C>T , CM000670.2:g.144414345C>T | GRCh38 |
| NC_000008.10:g.145639729C>T , CM000670.1:g.145639729C>T | GRCh37 |
| NC_000008.9:g.145610537C>T | NCBI36 |
| NG_012234.2:g.7546G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301305.8:c.1066G>A MANE Select | ENSP00000301305.4:p.Val356Ile | |
| ENST00000276833.9:c.991G>A | ENSP00000276833.5:p.Val331Ile | |
| ENST00000301305.7:c.1066G>A | ENSP00000301305.3:p.Val356Ile | |
| NM_017767.2:c.991G>A | NP_060237.2:p.Val331Ile | |
| NM_130849.3:c.1066G>A | NP_570901.2:p.Val356Ile | |
| XM_006716599.1:c.1066G>A | XP_006716662.1:p.Val356Ile | |
| XM_011517153.1:c.784G>A | XP_011515455.1:p.Val262Ile | |
| XM_024447188.1:c.784G>A | XP_024302956.1:p.Val262Ile | |
| XM_024447189.1:c.784G>A | XP_024302957.1:p.Val262Ile | |
| NM_001374839.1:c.784G>A | NP_001361768.1:p.Val262Ile | |
| NM_017767.3:c.991G>A | NP_060237.3:p.Val331Ile | |
| NM_130849.4:c.1066G>A MANE Select | NP_570901.3:p.Val356Ile |