Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.49991723A>G , CM000679.2:g.49991723A>G | GRCh38 |
| NC_000017.10:g.48069087A>G , CM000679.1:g.48069087A>G | GRCh37 |
| NC_000017.9:g.45424086A>G | NCBI36 |
| NG_023063.1:g.8502T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000434704.2:c.658T>C MANE Select | ENSP00000389870.2:p.Ser220Pro | |
| ENST00000512495.2:c.298T>C | ENSP00000449976.1:p.Ser100Pro | |
| NM_005220.2:c.658T>C | NP_005211.1:p.Ser220Pro | |
| XM_011524458.1:c.516+1677T>C | XP_011522760.1:n.516+1677T>C | |
| NM_005220.3:c.658T>C MANE Select | NP_005211.1:p.Ser220Pro |