Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129818750A>T , CM000671.2:g.129818750A>T | GRCh38 |
| NC_000009.11:g.132581029A>T , CM000671.1:g.132581029A>T | GRCh37 |
| NC_000009.10:g.131620850A>T | NCBI36 |
| NG_008049.1:g.10413T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000113.3:c.615T>A MANE Select | NP_000104.1:p.Phe205Leu |
| ENST00000351698.5:c.615T>A MANE Select | ENSP00000345719.4:p.Phe205Leu |
| NM_000113.2:c.615T>A | NP_000104.1:p.Phe205Leu |
| ENST00000351698.4:c.615T>A | ENSP00000345719.4:p.Phe205Leu |
| ENST00000473604.2:n.725T>A | |
| ENST00000474192.1:n.32T>A | |
| ENST00000651202.1:c.711T>A | ENSP00000498222.1:p.Phe237Leu |
| XR_929731.1:n.775T>A | |
| XR_929731.3:n.643T>A |