Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45529092C>G , CM000681.2:g.45529092C>G | GRCh38 |
| NC_000019.9:g.46032350C>G , CM000681.1:g.46032350C>G | GRCh37 |
| NC_000019.8:g.50724190C>G | NCBI36 |
| NG_013332.1:g.60773G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001017989.2:c.507G>C | NP_001017989.2:p.Pro169= |
| NM_001017989.3:c.507G>C | NP_001017989.2:p.Pro169= |
| ENST00000323060.3:c.507G>C | ENSP00000319817.3:p.Pro169= |
| ENST00000323060.4:c.507G>C | ENSP00000319817.3:p.Pro169= |
| XM_011527348.1:c.348G>C | XP_011525650.1:p.Pro116= |