Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120738181T>C , CM000674.2:g.120738181T>C | GRCh38 |
| NC_000012.11:g.121175984T>C , CM000674.1:g.121175984T>C | GRCh37 |
| NC_000012.10:g.119660367T>C | NCBI36 |
| NG_007991.1:g.17414T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000017.4:c.625-99T>C MANE Select | NP_000008.1:n.625-99T>C |
| ENST00000242592.9:c.625-99T>C MANE Select | ENSP00000242592.4:n.625-99T>C |
| NM_000017.3:c.625-99T>C | NP_000008.1:n.625-99T>C |
| NM_001302554.1:c.605T>C | NP_001289483.1:p.Leu202Pro |
| NM_001302554.2:c.605T>C | NP_001289483.1:p.Leu202Pro |
| ENST00000242592.8:c.625-99T>C | ENSP00000242592.4:n.625-99T>C |
| ENST00000411593.2:c.605T>C | ENSP00000401045.2:p.Leu202Pro |