Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94021871A>G , CM000663.2:g.94021871A>G | GRCh38 |
| NC_000001.10:g.94487427A>G , CM000663.1:g.94487427A>G | GRCh37 |
| NC_000001.9:g.94260015A>G | NCBI36 |
| NG_009073.1:g.104279T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000350.3:c.4748T>C MANE Select | NP_000341.2:p.Leu1583Pro |
| ENST00000370225.4:c.4748T>C MANE Select | ENSP00000359245.3:p.Leu1583Pro |
| NM_000350.2:c.4748T>C | NP_000341.2:p.Leu1583Pro |
| ENST00000370225.3:c.4748T>C | ENSP00000359245.3:p.Leu1583Pro |
| ENST00000460514.1:n.242T>C | |
| ENST00000536513.5:c.1124T>C | ENSP00000439707.2:p.Leu375Pro |