Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128773786G>A , CM000669.2:g.128773786G>A | GRCh38 |
| NC_000007.13:g.128413840G>A , CM000669.1:g.128413840G>A | GRCh37 |
| NC_000007.12:g.128201076G>A | NCBI36 |
| NG_009094.1:g.7005C>T | |
| NG_033110.1:g.39495G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001385125.1:c.781C>T MANE Select | NP_001372054.1:p.Pro261Ser |
| ENST00000249389.3:c.781C>T MANE Select | ENSP00000249389.3:p.Pro261Ser |
| NM_001708.2:c.790C>T | NP_001699.1:p.Pro264Ser |
| ENST00000249389.2:c.790C>T | ENSP00000249389.2:p.Pro264Ser |