Linked Data
dbSNP Id:
rs201140883
ExAC:
19:12776247 C / T
gnomAD v2:
19-12776247-C-T
gnomAD v3:
19-12665433-C-T
gnomAD v4:
19-12665433-C-T
COSMIC:
COSM5633329
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12665433C>T , CM000681.2:g.12665433C>T | GRCh38 |
| NC_000019.9:g.12776247C>T , CM000681.1:g.12776247C>T | GRCh37 |
| NC_000019.8:g.12637247C>T | NCBI36 |
| NG_008318.1:g.6345G>A | |
| NG_015814.1:g.3630C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456935.7:c.355G>A MANE Select | ENSP00000395473.2:p.Val119Met | |
| ENST00000221363.8:c.355G>A | ENSP00000221363.4:p.Val119Met | |
| ENST00000456935.6:c.355G>A | ENSP00000395473.2:p.Val119Met | |
| ENST00000466794.5:n.337G>A | ||
| ENST00000486847.2:c.252G>A | ENSP00000470174.1:p.Thr84= | |
| ENST00000596512.5:n.293G>A | ||
| ENST00000597961.1:c.346G>A | ENSP00000472710.1:p.Val116Met | |
| ENST00000598876.1:c.382G>A | ENSP00000470533.1:p.Val128Met | |
| ENST00000600281.1:n.396G>A | ||
| NM_000528.3:c.355G>A | NP_000519.2:p.Val119Met | |
| NM_001173498.1:c.355G>A | NP_001166969.1:p.Val119Met | |
| XM_005259913.1:c.355G>A | XP_005259970.1:p.Val119Met | |
| XM_005259913.2:c.355G>A | XP_005259970.1:p.Val119Met | |
| XM_024451518.1:c.-664G>A | XP_024307286.1:n.-664G>A | |
| NM_000528.4:c.355G>A MANE Select | NP_000519.2:p.Val119Met | |
| NM_001173498.2:c.355G>A | NP_001166969.1:p.Val119Met |