Linked Data
ClinVar Variation Id:
1000958
ClinVar RCV Id:
RCV001297170
dbSNP Id:
rs768290533
gnomAD v2:
2-97427194-G-A
gnomAD v3:
2-96761457-G-A
gnomAD v4:
2-96761457-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96761457G>A , CM000664.2:g.96761457G>A | GRCh38 |
| NC_000002.11:g.97427194G>A , CM000664.1:g.97427194G>A | GRCh37 |
| NC_000002.10:g.96790921G>A | NCBI36 |
| NG_016608.1:g.5556G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377075.3:c.458G>A MANE Select | ENSP00000366275.2:p.Arg153Gln | |
| ENST00000377075.2:c.458G>A | ENSP00000366275.2:p.Arg153Gln | |
| NM_020184.3:c.458G>A | NP_064569.3:p.Arg153Gln | |
| XM_005263914.2:c.458G>A | XP_005263971.1:p.Arg153Gln | |
| XM_005263915.2:c.458G>A | XP_005263972.1:p.Arg153Gln | |
| XM_011510955.1:c.458G>A | XP_011509257.1:p.Arg153Gln | |
| XM_011510956.1:c.458G>A | XP_011509258.1:p.Arg153Gln | |
| XM_005263914.4:c.458G>A | XP_005263971.1:p.Arg153Gln | |
| XM_005263915.4:c.458G>A | XP_005263972.1:p.Arg153Gln | |
| XM_011510955.3:c.458G>A | XP_011509257.1:p.Arg153Gln | |
| XM_011510956.3:c.458G>A | XP_011509258.1:p.Arg153Gln | |
| NM_020184.4:c.458G>A MANE Select | NP_064569.3:p.Arg153Gln |