ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.119922700T>C , CM000663.2:g.119922700T>C | GRCh38 |
| NC_000001.10:g.120465323T>C , CM000663.1:g.120465323T>C | GRCh37 |
| NC_000001.9:g.120266846T>C | NCBI36 |
| NG_008163.1:g.151954A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256646.7:c.4938A>G MANE Select | ENSP00000256646.2:p.Ala1646= | |
| ENST00000256646.6:c.4938A>G | ENSP00000256646.2:p.Ala1646= | |
| ENST00000493703.1:n.348A>G | ||
| NM_024408.3:c.4938A>G | NP_077719.2:p.Ala1646= | |
| XM_005270901.2:c.4821A>G | XP_005270958.1:p.Ala1607= | |
| XM_011541519.1:c.4926A>G | XP_011539821.1:p.Ala1642= | |
| XM_011541520.1:c.4821A>G | XP_011539822.1:p.Ala1607= | |
| NM_024408.4:c.4938A>G MANE Select | NP_077719.2:p.Ala1646= |