Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37955985C>A , CM000671.2:g.37955985C>A | GRCh38 |
| NC_000009.11:g.37955982C>A , CM000671.1:g.37955982C>A | GRCh37 |
| NC_000009.10:g.37945982C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377707.4:c.1124G>T MANE Select | ENSP00000366936.3:p.Arg375Leu | |
| ENST00000377707.3:c.1124G>T | ENSP00000366936.3:p.Arg375Leu | |
| ENST00000540557.1:c.*337G>T | ENSP00000457548.1:n.*337G>T | |
| NM_003028.2:c.1124G>T | NP_003019.2:p.Arg375Leu | |
| NM_003028.3:c.1124G>T MANE Select | NP_003019.2:p.Arg375Leu |