Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7527877A>C , CM000681.2:g.7527877A>C | GRCh38 |
| NC_000019.9:g.7592763A>C , CM000681.1:g.7592763A>C | GRCh37 |
| NC_000019.8:g.7498763A>C | NCBI36 |
| NG_015806.1:g.10268A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020533.3:c.694A>C MANE Select | NP_065394.1:p.Thr232Pro |
| ENST00000264079.11:c.694A>C MANE Select | ENSP00000264079.5:p.Thr232Pro |
| NM_020533.2:c.694A>C | NP_065394.1:p.Thr232Pro |
| ENST00000264079.10:c.694A>C | ENSP00000264079.5:p.Thr232Pro |
| ENST00000394321.9:n.1009A>C | |
| ENST00000601003.1:c.585A>C | ENSP00000469074.1:p.Ser195= |