Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80275031T>G , CM000672.2:g.80275031T>G | GRCh38 |
| NC_000010.10:g.82034787T>G , CM000672.1:g.82034787T>G | GRCh37 |
| NC_000010.9:g.82024767T>G | NCBI36 |
| NG_008083.1:g.19648A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.937A>C MANE Select | ENSP00000361287.3:p.Arg313= | |
| ENST00000372213.7:c.937A>C | ENSP00000361287.3:p.Arg313= | |
| ENST00000480845.1:n.169A>C | ||
| ENST00000485270.5:n.449A>C | ||
| NM_000429.2:c.937A>C | NP_000420.1:p.Arg313= | |
| XM_005269842.3:c.937A>C | XP_005269899.1:p.Arg313= | |
| XM_005269843.3:c.814A>C | XP_005269900.1:p.Arg272= | |
| NM_000429.3:c.937A>C MANE Select | NP_000420.1:p.Arg313= |