Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.54773601T>G , CM000681.2:g.54773601T>G | GRCh38 |
| NC_000019.8:g.59976865T>G | NCBI36 |
| NG_051369.1:g.9394T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014218.3:c.339T>G MANE Select | NP_055033.2:p.Ala113= |
| ENST00000336077.11:c.339T>G MANE Select | ENSP00000336769.5:p.Ala113= |
| NM_014218.2:c.339T>G | NP_055033.2:p.Ala113= |
| ENST00000291633.7:c.339T>G | ENSP00000291633.7:p.Ala113= |
| ENST00000336077.10:c.339T>G | ENSP00000336769.5:p.Ala113= |
| XM_011526939.1:c.339T>G | XP_011525241.1:p.Ala113= |
| XM_011526939.2:c.339T>G | XP_011525241.1:p.Ala113= |
| XM_017026782.1:c.180T>G | XP_016882271.1:p.Ala60= |
| XM_017026783.1:c.339T>G | XP_016882272.1:p.Ala113= |