Linked Data
ClinVar Variation Id:
241231
ClinVar RCV Id:
RCV000228173
dbSNP Id:
rs199564182
ExAC:
17:78024061 G / A
gnomAD v2:
17-78024061-G-A
gnomAD v3:
17-80050262-G-A
gnomAD v4:
17-80050262-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80050262G>A , CM000679.2:g.80050262G>A | GRCh38 |
| NC_000017.10:g.78024061G>A , CM000679.1:g.78024061G>A | GRCh37 |
| NC_000017.9:g.75638656G>A | NCBI36 |
| NG_029761.1:g.18631G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397545.9:c.1138G>A MANE Select | ENSP00000380679.4:p.Ala380Thr | |
| ENST00000269318.9:c.1138G>A | ENSP00000269318.5:p.Ala380Thr | |
| ENST00000374876.4:c.1138G>A | ENSP00000364010.4:p.Ala380Thr | |
| ENST00000374877.7:c.1138G>A | ENSP00000364011.3:p.Ala380Thr | |
| ENST00000397545.8:c.1138G>A | ENSP00000380679.4:p.Ala380Thr | |
| ENST00000574799.5:n.675G>A | ||
| NM_001243342.1:c.1138G>A | NP_001230271.1:p.Ala380Thr | |
| NM_017950.3:c.1138G>A | NP_060420.2:p.Ala380Thr | |
| XM_005257492.3:c.1138G>A | XP_005257549.1:p.Ala380Thr | |
| XM_011524963.1:c.1048G>A | XP_011523265.1:p.Ala350Thr | |
| XM_011524965.1:c.1138G>A | XP_011523267.1:p.Ala380Thr | |
| XR_934495.1:n.1169G>A | ||
| NM_001330508.1:c.1138G>A | NP_001317437.1:p.Ala380Thr | |
| XM_011524963.3:c.1048G>A | XP_011523265.1:p.Ala350Thr | |
| XM_011524965.3:c.1138G>A | XP_011523267.1:p.Ala380Thr | |
| XM_017024807.1:c.1138G>A | XP_016880296.1:p.Ala380Thr | |
| XM_024450821.1:c.1048G>A | XP_024306589.1:p.Ala350Thr | |
| XR_001752550.2:n.1169G>A | ||
| XR_934495.2:n.1169G>A | ||
| NM_017950.4:c.1138G>A MANE Select | NP_060420.2:p.Ala380Thr | |
| NM_001330508.2:c.1138G>A | NP_001317437.1:p.Ala380Thr | |
| NM_001243342.2:c.1138G>A | NP_001230271.1:p.Ala380Thr |