Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.13854787C>T , CM000665.2:g.13854787C>T | GRCh38 |
| NC_000003.11:g.13896284C>T , CM000665.1:g.13896284C>T | GRCh37 |
| NC_000003.10:g.13871285C>T | NCBI36 |
| NG_008088.1:g.30335G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004625.4:c.315G>A MANE Select | NP_004616.2:p.Ala105= |
| ENST00000285018.5:c.315G>A MANE Select | ENSP00000285018.4:p.Ala105= |
| NM_004625.3:c.315G>A | NP_004616.2:p.Ala105= |
| ENST00000285018.4:c.315G>A | ENSP00000285018.4:p.Ala105= |
| XM_011534090.1:c.114G>A | XP_011532392.1:p.Ala38= |
| XM_011534091.1:c.114G>A | XP_011532393.1:p.Ala38= |
| XM_011534091.2:c.114G>A | XP_011532393.1:p.Ala38= |