Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.23084572G>A , CM000682.2:g.23084572G>A | GRCh38 |
| NC_000020.10:g.23065209G>A , CM000682.1:g.23065209G>A | GRCh37 |
| NC_000020.9:g.23013209G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_012072.4:c.1621C>T MANE Select | NP_036204.2:p.Pro541Ser |
| ENST00000246006.5:c.1621C>T MANE Select | ENSP00000246006.4:p.Pro541Ser |
| NM_012072.3:c.1621C>T | NP_036204.2:p.Pro541Ser |
| ENST00000246006.4:c.1621C>T | ENSP00000246006.4:p.Pro541Ser |
| XR_001754208.2:n.2259C>T |