Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.55110545A>G , CM000666.2:g.55110545A>G | GRCh38 |
| NC_000004.11:g.55976712A>G , CM000666.1:g.55976712A>G | GRCh37 |
| NC_000004.10:g.55671469A>G | NCBI36 |
| NG_012004.1:g.20051T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263923.5:c.1113T>C MANE Select | ENSP00000263923.4:p.Leu371= | |
| ENST00000647068.1:n.1126T>C | ||
| ENST00000263923.4:c.1113T>C | ENSP00000263923.4:p.Leu371= | |
| ENST00000512566.1:n.1113T>C | ||
| NM_002253.2:c.1113T>C | NP_002244.1:p.Leu371= | |
| NM_002253.3:c.1113T>C | NP_002244.1:p.Leu371= | |
| NM_002253.4:c.1113T>C MANE Select | NP_002244.1:p.Leu371= |