Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128774545A= , CM000669.2:g.128774545A= | GRCh38 |
| NC_000007.13:g.128414599A= , CM000669.1:g.128414599A= | GRCh37 |
| NC_000007.12:g.128201835A= | NCBI36 |
| NG_009094.1:g.6246T= | |
| NG_033110.1:g.40254A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000249389.3:c.631T= MANE Select | ENSP00000249389.3:p.Ser211= | |
| ENST00000249389.2:c.640T= | ENSP00000249389.2:p.Ser214= | |
| NM_001708.2:c.640T= | NP_001699.1:p.Ser214= | |
| NM_001385125.1:c.631T= MANE Select | NP_001372054.1:p.Ser211= |