Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.23084572G>T , CM000682.2:g.23084572G>T | GRCh38 |
| NC_000020.10:g.23065209G>T , CM000682.1:g.23065209G>T | GRCh37 |
| NC_000020.9:g.23013209G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_012072.4:c.1621C>A MANE Select | NP_036204.2:p.Pro541Thr |
| ENST00000246006.5:c.1621C>A MANE Select | ENSP00000246006.4:p.Pro541Thr |
| NM_012072.3:c.1621C>A | NP_036204.2:p.Pro541Thr |
| ENST00000246006.4:c.1621C>A | ENSP00000246006.4:p.Pro541Thr |
| XR_001754208.2:n.2259C>A |