Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.72887520C>T , CM000664.2:g.72887520C>T | GRCh38 |
| NC_000002.11:g.73114649C>T , CM000664.1:g.73114649C>T | GRCh37 |
| NC_000002.10:g.72968157C>T | NCBI36 |
| NG_008234.1:g.5138C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003124.5:c.88C>T MANE Select | NP_003115.1:p.Leu30= |
| ENST00000234454.6:c.88C>T MANE Select | ENSP00000234454.5:p.Leu30= |
| NM_003124.4:c.88C>T | NP_003115.1:p.Leu30= |
| ENST00000234454.5:c.88C>T | ENSP00000234454.5:p.Leu30= |
| ENST00000498749.1:n.139C>T |