Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14134811T>G , CM000665.2:g.14134811T>G | GRCh38 |
| NC_000003.11:g.14176311T>G , CM000665.1:g.14176311T>G | GRCh37 |
| NC_000003.10:g.14151312T>G | NCBI36 |
| NG_008975.1:g.14872T>G , LRG_435:g.14872T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024334.3:c.625T>G MANE Select | NP_077310.1:p.Ser209Ala |
| ENST00000306077.5:c.625T>G MANE Select | ENSP00000303992.5:p.Ser209Ala |
| NM_024334.2:c.625T>G , LRG_435t1:c.625T>G | NP_077310.1:p.Ser209Ala |
| ENST00000306077.4:c.625T>G | ENSP00000303992.4:p.Ser209Ala |
| ENST00000432444.2:c.*655T>G | ENSP00000395617.1:n.*655T>G |
| XM_011534109.1:c.520T>G | XP_011532411.1:p.Ser174Ala |
| XM_017007176.2:c.520T>G | XP_016862665.1:p.Ser174Ala |