Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.103551730C>T , CM000663.2:g.103551730C>T | GRCh38 |
| NC_000001.10:g.104094352C>T , CM000663.1:g.104094352C>T | GRCh37 |
| NC_000001.9:g.103895875C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_017619.4:c.1504C>T MANE Select | NP_060089.1:p.Arg502Ter |
| ENST00000423855.7:c.1504C>T MANE Select | ENSP00000391432.1:p.Arg502Ter |
| NM_017619.3:c.1504C>T | NP_060089.1:p.Arg502Ter |
| ENST00000423855.6:c.1504C>T | ENSP00000391432.1:p.Arg502Ter |
| ENST00000524631.5:c.1501C>T | ENSP00000437278.1:p.Arg501Ter |
| ENST00000532117.1:c.7C>T | ENSP00000434721.1:p.Arg3Ter |
| ENST00000533099.5:c.1504C>T | ENSP00000432886.1:p.Arg502Ter |
| ENST00000533834.1:n.2610C>T |