Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44251499T>G , CM000679.2:g.44251499T>G | GRCh38 |
| NC_000017.10:g.42328867T>G , CM000679.1:g.42328867T>G | GRCh37 |
| NC_000017.9:g.39684393T>G | NCBI36 |
| NG_007498.1:g.21636A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000342.4:c.2401A>C MANE Select | NP_000333.1:p.Ser801Arg |
| ENST00000262418.12:c.2401A>C MANE Select | ENSP00000262418.6:p.Ser801Arg |
| NM_000342.3:c.2401A>C | NP_000333.1:p.Ser801Arg |
| ENST00000262418.10:c.2401A>C | ENSP00000262418.6:p.Ser801Arg |
| ENST00000399246.3:c.1303A>C | ENSP00000382190.3:p.Ser435Arg |
| XM_005257593.3:c.2206A>C | XP_005257650.1:p.Ser736Arg |
| XM_005257593.5:c.2206A>C | XP_005257650.1:p.Ser736Arg |
| XM_011525129.1:c.2311A>C | XP_011523431.1:p.Ser771Arg |
| XM_011525129.2:c.2311A>C | XP_011523431.1:p.Ser771Arg |