Linked Data
ClinVar Variation Id:
1309888
ClinVar RCV Id:
RCV001756956
dbSNP Id:
rs2024023250
gnomAD v4:
19-12658313-C-T
COSMIC:
COSM3403779
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12658313C>T , CM000681.2:g.12658313C>T | GRCh38 |
| NC_000019.9:g.12769127C>T , CM000681.1:g.12769127C>T | GRCh37 |
| NC_000019.8:g.12630127C>T | NCBI36 |
| NG_008318.1:g.13465G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456935.7:c.1141G>A MANE Select | ENSP00000395473.2:p.Ala381Thr | |
| ENST00000221363.8:c.1138G>A | ENSP00000221363.4:p.Ala380Thr | |
| ENST00000456935.6:c.1141G>A | ENSP00000395473.2:p.Ala381Thr | |
| ENST00000465830.1:n.305G>A | ||
| ENST00000466794.5:n.1040G>A | ||
| ENST00000495617.1:n.280+418G>A | ||
| NM_000528.3:c.1141G>A | NP_000519.2:p.Ala381Thr | |
| NM_001173498.1:c.1138G>A | NP_001166969.1:p.Ala380Thr | |
| XM_005259913.1:c.1144G>A | XP_005259970.1:p.Ala382Thr | |
| XM_011528017.1:c.40G>A | XP_011526319.1:p.Ala14Thr | |
| XM_005259913.2:c.1144G>A | XP_005259970.1:p.Ala382Thr | |
| XM_024451518.1:c.40G>A | XP_024307286.1:p.Ala14Thr | |
| NM_000528.4:c.1141G>A MANE Select | NP_000519.2:p.Ala381Thr | |
| NM_001173498.2:c.1138G>A | NP_001166969.1:p.Ala380Thr |