Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72121728A>C , CM000679.2:g.72121728A>C | GRCh38 |
| NC_000017.10:g.70117869A>C , CM000679.1:g.70117869A>C | GRCh37 |
| NC_000017.9:g.67629464A>C | NCBI36 |
| NG_012490.1:g.5709A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000346.4:c.337A>C MANE Select | NP_000337.1:p.Met113Leu |
| ENST00000245479.3:c.337A>C MANE Select | ENSP00000245479.2:p.Met113Leu |
| NM_000346.3:c.337A>C | NP_000337.1:p.Met113Leu |
| ENST00000245479.2:c.337A>C | ENSP00000245479.2:p.Met113Leu |