Linked Data
ClinVar Variation Id:
1382086
ClinVar RCV Id:
RCV001922139
dbSNP Id:
rs971436574
gnomAD v2:
19-12769126-G-A
gnomAD v3:
19-12658312-G-A
gnomAD v4:
19-12658312-G-A
COSMIC:
COSM1390610
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12658312G>A , CM000681.2:g.12658312G>A | GRCh38 |
| NC_000019.9:g.12769126G>A , CM000681.1:g.12769126G>A | GRCh37 |
| NC_000019.8:g.12630126G>A | NCBI36 |
| NG_008318.1:g.13466C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456935.7:c.1142C>T MANE Select | ENSP00000395473.2:p.Ala381Val | |
| ENST00000221363.8:c.1139C>T | ENSP00000221363.4:p.Ala380Val | |
| ENST00000456935.6:c.1142C>T | ENSP00000395473.2:p.Ala381Val | |
| ENST00000465830.1:n.306C>T | ||
| ENST00000466794.5:n.1041C>T | ||
| ENST00000495617.1:n.280+419C>T | ||
| NM_000528.3:c.1142C>T | NP_000519.2:p.Ala381Val | |
| NM_001173498.1:c.1139C>T | NP_001166969.1:p.Ala380Val | |
| XM_005259913.1:c.1145C>T | XP_005259970.1:p.Ala382Val | |
| XM_011528017.1:c.41C>T | XP_011526319.1:p.Ala14Val | |
| XM_005259913.2:c.1145C>T | XP_005259970.1:p.Ala382Val | |
| XM_024451518.1:c.41C>T | XP_024307286.1:p.Ala14Val | |
| NM_000528.4:c.1142C>T MANE Select | NP_000519.2:p.Ala381Val | |
| NM_001173498.2:c.1139C>T | NP_001166969.1:p.Ala380Val |