Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35658635C>T , CM000681.2:g.35658635C>T | GRCh38 |
| NC_000019.9:g.36149537C>T , CM000681.1:g.36149537C>T | GRCh37 |
| NC_000019.8:g.40841377C>T | NCBI36 |
| NG_012193.1:g.15383C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001863.5:c.249C>T MANE Select | NP_001854.1:p.Pro83= |
| ENST00000649813.2:c.249C>T MANE Select | ENSP00000497926.1:p.Pro83= |
| NM_001863.4:c.249C>T | NP_001854.1:p.Pro83= |
| ENST00000246554.7:c.249C>T | ENSP00000246554.2:p.Pro83= |
| ENST00000392201.1:c.249C>T | ENSP00000376037.2:p.Pro83= |
| ENST00000590618.1:c.147C>T | |
| ENST00000592141.5:c.249C>T | ENSP00000466818.2:p.Pro83= |
| ENST00000592141.6:c.249C>T | ENSP00000466818.2:p.Pro83= |