Linked Data
ClinVar Variation Id:
742622
ClinVar RCV Id:
RCV000918896
dbSNP Id:
rs748832203
ExAC:
X:70524120 G / A
gnomAD v2:
X-70524120-G-A
gnomAD v3:
X-71304270-G-A
gnomAD v4:
X-71304270-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.71304270G>A , CM000685.2:g.71304270G>A | GRCh38 |
| NC_000023.10:g.70524120G>A , CM000685.1:g.70524120G>A | GRCh37 |
| NC_000023.9:g.70440845G>A | NCBI36 |
| NG_054891.1:g.7996G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373829.8:c.723G>A MANE Select | ENSP00000362935.3:p.Ala241= | |
| ENST00000373829.7:c.723G>A | ENSP00000362935.3:p.Ala241= | |
| ENST00000465388.1:n.377G>A | ||
| ENST00000475413.1:n.204G>A | ||
| ENST00000538820.1:c.669G>A | ENSP00000440289.1:p.Ala223= | |
| NM_001303277.1:c.354G>A | NP_001290206.1:p.Ala118= | |
| NM_012278.2:c.723G>A | NP_036410.1:p.Ala241= | |
| NM_001303277.2:c.354G>A | NP_001290206.1:p.Ala118= | |
| NM_012278.3:c.723G>A | NP_036410.1:p.Ala241= | |
| NM_012278.4:c.723G>A MANE Select | NP_036410.1:p.Ala241= | |
| NM_001303277.3:c.354G>A | NP_001290206.1:p.Ala118= |