Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.49633835C>G , CM000676.2:g.49633835C>G | GRCh38 |
| NC_000014.8:g.50100553C>G , CM000676.1:g.50100553C>G | GRCh37 |
| NC_000014.7:g.49170303C>G | NCBI36 |
| NG_013070.1:g.6396G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018139.3:c.1315G>C MANE Select | NP_060609.2:p.Asp439His |
| ENST00000298292.13:c.1315G>C MANE Select | ENSP00000298292.8:p.Asp439His |
| NM_001083908.1:c.1315G>C | NP_001077377.1:p.Asp439His |
| NM_001083908.2:c.1315G>C | NP_001077377.1:p.Asp439His |
| NM_001378453.1:c.-557G>C | NP_001365382.1:n.-557G>C |
| NM_018139.2:c.1315G>C | NP_060609.2:p.Asp439His |
| ENST00000298292.12:c.1315G>C | ENSP00000298292.8:p.Asp439His |
| ENST00000406043.3:c.1315G>C | ENSP00000384862.3:p.Asp439His |