Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.40354370C>T , CM000666.2:g.40354370C>T | GRCh38 |
| NC_000004.11:g.40356387C>T , CM000666.1:g.40356387C>T | GRCh37 |
| NC_000004.10:g.40051144C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310169.3:c.1290C>T MANE Select | ENSP00000312663.2:p.Tyr430= | |
| ENST00000310169.2:c.1290C>T | ENSP00000312663.2:p.Tyr430= | |
| NM_017581.3:c.1290C>T | NP_060051.2:p.Tyr430= | |
| NM_017581.4:c.1290C>T MANE Select | NP_060051.2:p.Tyr430= |