Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128774545A>T , CM000669.2:g.128774545A>T | GRCh38 |
| NC_000007.13:g.128414599A>T , CM000669.1:g.128414599A>T | GRCh37 |
| NC_000007.12:g.128201835A>T | NCBI36 |
| NG_009094.1:g.6246T>A | |
| NG_033110.1:g.40254A>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001385125.1:c.631T>A MANE Select | NP_001372054.1:p.Ser211Thr |
| ENST00000249389.3:c.631T>A MANE Select | ENSP00000249389.3:p.Ser211Thr |
| NM_001708.2:c.640T>A | NP_001699.1:p.Ser214Thr |
| ENST00000249389.2:c.640T>A | ENSP00000249389.2:p.Ser214Thr |