Linked Data
ClinVar Variation Id:
956787
ClinVar RCV Id:
RCV001229660
dbSNP Id:
rs747521980
ExAC:
11:45932464 C / T
gnomAD v2:
11-45932464-C-T
gnomAD v4:
11-45910913-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.45910913C>T , CM000673.2:g.45910913C>T | GRCh38 |
| NC_000011.9:g.45932464C>T , CM000673.1:g.45932464C>T | GRCh37 |
| NC_000011.8:g.45889040C>T | NCBI36 |
| NG_008460.1:g.12211G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378750.10:c.937G>A MANE Select | ENSP00000368024.5:p.Val313Ile | |
| ENST00000241041.7:c.937G>A | ENSP00000241041.3:p.Val313Ile | |
| ENST00000378750.9:c.937G>A | ENSP00000368024.5:p.Val313Ile | |
| ENST00000523721.2:n.167G>A | ||
| ENST00000532681.5:c.652G>A | ENSP00000434654.1:p.Val218Ile | |
| NM_004813.2:c.937G>A | NP_004804.1:p.Val313Ile | |
| NM_057174.2:c.937G>A | NP_476515.1:p.Val313Ile | |
| XM_011520474.1:c.814G>A | XP_011518776.1:p.Val272Ile | |
| NM_004813.3:c.937G>A | NP_004804.1:p.Val313Ile | |
| NM_004813.4:c.937G>A MANE Select | NP_004804.2:p.Val313Ile | |
| NM_057174.3:c.937G>A | NP_476515.2:p.Val313Ile |