Linked Data
dbSNP Id:
rs754931221
ExAC:
10:96522574 G / A
gnomAD v2:
10-96522574-G-A
gnomAD v4:
10-94762817-G-A
COSMIC:
COSM3441932
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94762817G>A , CM000672.2:g.94762817G>A | GRCh38 |
| NC_000010.10:g.96522574G>A , CM000672.1:g.96522574G>A | GRCh37 |
| NC_000010.9:g.96512564G>A | NCBI36 |
| NG_008384.2:g.5112G>A | |
| NG_008384.3:g.5137G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.112G>A MANE Select | ENSP00000360372.3:p.Val38Met | |
| ENST00000371321.7:c.112G>A | ENSP00000360372.3:p.Val38Met | |
| ENST00000464755.1:c.932-12241G>A | ENSP00000483243.1:n.932-12241G>A | |
| ENST00000480405.2:c.112G>A | ENSP00000483847.1:p.Val38Met | |
| NM_000769.2:c.112G>A | NP_000760.1:p.Val38Met | |
| NM_000769.4:c.112G>A MANE Select | NP_000760.1:p.Val38Met |