Linked Data
ClinVar Variation Id:
1373652
ClinVar RCV Id:
RCV001880790
dbSNP Id:
rs2053477029
gnomAD v4:
17-75524353-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75524353G>A , CM000679.2:g.75524353G>A | GRCh38 |
| NC_000017.10:g.73520434G>A , CM000679.1:g.73520434G>A | GRCh37 |
| NC_000017.9:g.71032029G>A | NCBI36 |
| NG_013041.1:g.12826G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333213.11:c.1522G>A MANE Select | ENSP00000327487.6:p.Gly508Ser | |
| ENST00000434205.8:c.1219G>A | ENSP00000406559.4:p.Gly407Ser | |
| ENST00000545228.3:c.*21G>A | ENSP00000438169.3:n.*21G>A | |
| ENST00000577197.2:n.720G>A | ||
| ENST00000579449.2:n.2262G>A | ||
| ENST00000580013.6:n.2666G>A | ||
| ENST00000679370.1:n.3044G>A | ||
| ENST00000679429.1:c.*980G>A | ENSP00000505403.1:n.*980G>A | |
| ENST00000679443.1:n.1591G>A | ||
| ENST00000679782.1:c.*221G>A | ENSP00000505995.1:n.*221G>A | |
| ENST00000679919.1:n.1793G>A | ||
| ENST00000679928.1:c.*2074G>A | ENSP00000506071.1:n.*2074G>A | |
| ENST00000680528.1:n.2488G>A | ||
| ENST00000680999.1:c.1735G>A | ENSP00000504984.1:p.Gly579Ser | |
| ENST00000681282.1:c.*1709G>A | ENSP00000506339.1:n.*1709G>A | |
| ENST00000333213.10:c.1522G>A | ENSP00000327487.6:p.Gly508Ser | |
| ENST00000545228.2:c.799G>A | ||
| ENST00000577197.1:n.270G>A | ||
| ENST00000579449.1:n.719G>A | ||
| NM_207346.2:c.1522G>A | NP_997229.2:p.Gly508Ser | |
| XM_005257229.2:c.*21G>A | XP_005257286.1:n.*21G>A | |
| XM_006721821.2:c.*21G>A | XP_006721884.1:n.*21G>A | |
| XM_011524616.1:c.*21G>A | XP_011522918.1:n.*21G>A | |
| XM_011524618.1:c.1405G>A | XP_011522920.1:p.Gly469Ser | |
| XR_243646.2:n.1754G>A | ||
| XM_005257229.4:c.*21G>A | XP_005257286.1:n.*21G>A | |
| XR_001753015.1:n.45C>T | ||
| XR_001753016.1:n.46C>T | ||
| XR_243646.4:n.1760G>A | ||
| NM_207346.3:c.1522G>A MANE Select | NP_997229.2:p.Gly508Ser |