Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.20006173G>A , CM000664.2:g.20006173G>A | GRCh38 |
| NC_000002.11:g.20205934G>A , CM000664.1:g.20205934G>A | GRCh37 |
| NC_000002.10:g.20069415G>A | NCBI36 |
| NG_008087.1:g.11522C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000407540.8:c.361C>T MANE Select | ENSP00000383894.3:p.Arg121Trp | |
| ENST00000407540.7:c.361C>T | ENSP00000383894.3:p.Arg121Trp | |
| ENST00000421259.2:c.361C>T | ENSP00000398753.2:p.Arg121Trp | |
| NM_002381.4:c.361C>T | NP_002372.1:p.Arg121Trp | |
| NM_002381.5:c.361C>T MANE Select | NP_002372.1:p.Arg121Trp |