Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.4862830C>T , CM000666.2:g.4862830C>T | GRCh38 |
| NC_000004.11:g.4864557C>T , CM000666.1:g.4864557C>T | GRCh37 |
| NC_000004.10:g.4915458C>T | NCBI36 |
| NG_008121.1:g.8166C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382723.5:c.599C>T MANE Select | ENSP00000372170.4:p.Ala200Val | |
| ENST00000382723.4:c.599C>T | ENSP00000372170.4:p.Ala200Val | |
| ENST00000468421.1:n.311C>T | ||
| NM_002448.3:c.599C>T MANE Select | NP_002439.2:p.Ala200Val |