Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73869777C>T , CM000666.2:g.73869777C>T | GRCh38 |
| NC_000004.11:g.74735494C>T , CM000666.1:g.74735494C>T | GRCh37 |
| NC_000004.10:g.74954358C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001511.4:c.209C>T MANE Select | NP_001502.1:p.Ala70Val |
| ENST00000395761.4:c.209C>T MANE Select | ENSP00000379110.3:p.Ala70Val |
| NM_001511.3:c.209C>T | NP_001502.1:p.Ala70Val |
| NR_046035.1:n.311C>T | |
| NR_046035.2:n.310C>T | |
| ENST00000395761.3:c.209C>T | ENSP00000379110.3:p.Ala70Val |
| ENST00000509101.1:n.287C>T |