Linked Data
ClinVar Variation Id:
2473266
ClinVar RCV Id:
RCV004266560
dbSNP Id:
rs769364619
ExAC:
X:55514061 G / A
gnomAD v2:
X-55514061-G-A
gnomAD v3:
X-55487628-G-A
gnomAD v4:
X-55487628-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.55487628G>A , CM000685.2:g.55487628G>A | GRCh38 |
| NC_000023.10:g.55514061G>A , CM000685.1:g.55514061G>A | GRCh37 |
| NC_000023.9:g.55530786G>A | NCBI36 |
| NG_021371.1:g.6571C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000500968.4:c.1312C>T MANE Select | ENSP00000423333.2:p.His438Tyr | |
| ENST00000500968.3:c.1312C>T | ENSP00000423333.2:p.His438Tyr | |
| ENST00000586165.1:n.467C>T | ||
| NM_201286.3:c.1312C>T | NP_958443.1:p.His438Tyr | |
| XM_005261993.2:c.589C>T | XP_005262050.1:p.His197Tyr | |
| XM_017029299.1:c.1312C>T | XP_016884788.1:p.His438Tyr | |
| XM_017029300.1:c.1312C>T | XP_016884789.1:p.His438Tyr | |
| XM_017029301.1:c.1312C>T | XP_016884790.1:p.His438Tyr | |
| NM_201286.4:c.1312C>T MANE Select | NP_958443.1:p.His438Tyr |