Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.60975763T>G , CM000676.2:g.60975763T>G | GRCh38 |
| NC_000014.8:g.61442481T>G , CM000676.1:g.61442481T>G | GRCh37 |
| NC_000014.7:g.60512234T>G | NCBI36 |
| NG_053119.1:g.10928A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_020810.3:c.1156A>C MANE Select | NP_065861.3:p.Met386Leu |
| ENST00000261249.7:c.1156A>C MANE Select | ENSP00000261249.6:p.Met386Leu |
| NM_001350253.1:c.1240A>C | NP_001337182.1:p.Met414Leu |
| NM_001350254.1:c.1237A>C | NP_001337183.1:p.Met413Leu |
| ENST00000261249.6:c.1156A>C | ENSP00000261249.6:p.Met386Leu |
| XM_005267916.2:c.1240A>C | XP_005267973.2:p.Met414Leu |
| XM_011537017.1:c.1237A>C | XP_011535319.1:p.Met413Leu |