Linked Data
ClinVar Variation Id:
2879776
ClinVar RCV Id:
RCV003710941
dbSNP Id:
rs1176156962
gnomAD v3:
17-75522071-G-A
gnomAD v4:
17-75522071-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75522071G>A , CM000679.2:g.75522071G>A | GRCh38 |
| NC_000017.10:g.73518152G>A , CM000679.1:g.73518152G>A | GRCh37 |
| NC_000017.9:g.71029747G>A | NCBI36 |
| NG_013041.1:g.10544G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333213.11:c.990G>A MANE Select | ENSP00000327487.6:p.Arg330= | |
| ENST00000434205.8:c.687G>A | ENSP00000406559.4:p.Arg229= | |
| ENST00000545228.3:c.990G>A | ENSP00000438169.3:p.Arg330= | |
| ENST00000579449.2:n.789G>A | ||
| ENST00000580013.6:n.1193G>A | ||
| ENST00000679370.1:n.1571G>A | ||
| ENST00000679429.1:c.*448G>A | ENSP00000505403.1:n.*448G>A | |
| ENST00000679443.1:n.1059G>A | ||
| ENST00000679782.1:c.990G>A | ENSP00000505995.1:p.Arg330= | |
| ENST00000679919.1:n.1059G>A | ||
| ENST00000679928.1:c.*601G>A | ENSP00000506071.1:n.*601G>A | |
| ENST00000680528.1:n.1015G>A | ||
| ENST00000680999.1:c.990G>A | ENSP00000504984.1:p.Arg330= | |
| ENST00000681282.1:c.*236G>A | ENSP00000506339.1:n.*236G>A | |
| ENST00000333213.10:c.990G>A | ENSP00000327487.6:p.Arg330= | |
| ENST00000545228.2:c.79G>A | ||
| ENST00000578415.1:c.950G>A | ||
| ENST00000583173.5:c.523G>A | ENSP00000463619.1:p.Gly175Arg | |
| NM_207346.2:c.990G>A | NP_997229.2:p.Arg330= | |
| XM_005257229.2:c.990G>A | XP_005257286.1:p.Arg330= | |
| XM_006721821.2:c.687G>A | XP_006721884.1:p.Arg229= | |
| XM_011524616.1:c.990G>A | XP_011522918.1:p.Arg330= | |
| XM_011524617.1:c.990G>A | XP_011522919.1:p.Arg330= | |
| XM_011524618.1:c.990G>A | XP_011522920.1:p.Arg330= | |
| XR_243646.2:n.1020G>A | ||
| XM_005257229.4:c.990G>A | XP_005257286.1:p.Arg330= | |
| XR_243646.4:n.1026G>A | ||
| NM_207346.3:c.990G>A MANE Select | NP_997229.2:p.Arg330= |