Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128774545A>G , CM000669.2:g.128774545A>G | GRCh38 |
| NC_000007.13:g.128414599A>G , CM000669.1:g.128414599A>G | GRCh37 |
| NC_000007.12:g.128201835A>G | NCBI36 |
| NG_009094.1:g.6246T>C | |
| NG_033110.1:g.40254A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001385125.1:c.631T>C MANE Select | NP_001372054.1:p.Ser211Pro |
| ENST00000249389.3:c.631T>C MANE Select | ENSP00000249389.3:p.Ser211Pro |
| NM_001708.2:c.640T>C | NP_001699.1:p.Ser214Pro |
| ENST00000249389.2:c.640T>C | ENSP00000249389.2:p.Ser214Pro |