Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.49991541C>T , CM000679.2:g.49991541C>T | GRCh38 |
| NC_000017.10:g.48068905C>T , CM000679.1:g.48068905C>T | GRCh37 |
| NC_000017.9:g.45423904C>T | NCBI36 |
| NG_023063.1:g.8684G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005220.3:c.840G>A MANE Select | NP_005211.1:p.Pro280= |
| ENST00000434704.2:c.840G>A MANE Select | ENSP00000389870.2:p.Pro280= |
| NM_005220.2:c.840G>A | NP_005211.1:p.Pro280= |
| ENST00000512495.2:c.480G>A | ENSP00000449976.1:p.Pro160= |
| XM_011524458.1:c.516+1859G>A | XP_011522760.1:n.516+1859G>A |