Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232522761C>T , CM000664.2:g.232522761C>T | GRCh38 |
| NC_000002.11:g.233387471C>T , CM000664.1:g.233387471C>T | GRCh37 |
| NC_000002.10:g.233095715C>T | NCBI36 |
| NG_008028.1:g.1550C>T | |
| NG_031969.1:g.7299C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001195129.2:c.606C>T MANE Select | NP_001182058.1:p.Ser202= |
| ENST00000617714.2:c.606C>T MANE Select | ENSP00000479745.1:p.Ser202= |
| NM_001195129.1:c.606C>T | NP_001182058.1:p.Ser202= |
| NM_001369848.1:c.606C>T | NP_001356777.1:p.Ser202= |
| ENST00000449534.6:c.606C>T | ENSP00000473410.1:p.Ser202= |
| ENST00000602410.1:n.261C>T | |
| ENST00000617714.1:c.606C>T | ENSP00000479745.1:p.Ser202= |