Linked Data
dbSNP Id:
rs781963874
ExAC:
22:19164389 C / T
gnomAD v2:
22-19164389-C-T
gnomAD v3:
22-19176876-C-T
gnomAD v4:
22-19176876-C-T
COSMIC:
COSM6363769
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19176876C>T , CM000684.2:g.19176876C>T | GRCh38 |
| NC_000022.10:g.19164389C>T , CM000684.1:g.19164389C>T | GRCh37 |
| NC_000022.9:g.17544389C>T | NCBI36 |
| NG_033863.1:g.6988G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215882.10:c.601G>A MANE Select | ENSP00000215882.5:p.Val201Ile | |
| ENST00000215882.9:c.601G>A | ENSP00000215882.5:p.Val201Ile | |
| ENST00000451283.5:c.292G>A | ENSP00000401480.1:p.Val98Ile | |
| ENST00000461267.1:n.747G>A | ||
| ENST00000470922.5:n.743G>A | ||
| NM_001256534.1:c.622G>A | NP_001243463.1:p.Val208Ile | |
| NM_001287387.1:c.292G>A | NP_001274316.1:p.Val98Ile | |
| NM_005984.4:c.601G>A | NP_005975.1:p.Val201Ile | |
| NR_046298.2:n.652G>A | ||
| NM_005984.5:c.601G>A MANE Select | NP_005975.1:p.Val201Ile | |
| NM_001256534.2:c.622G>A | NP_001243463.1:p.Val208Ile | |
| NM_001287387.2:c.292G>A | NP_001274316.1:p.Val98Ile | |
| NR_046298.3:n.525G>A |