Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77597351T>G , CM000676.2:g.77597351T>G | GRCh38 |
| NC_000014.8:g.78063694T>G , CM000676.1:g.78063694T>G | GRCh37 |
| NC_000014.7:g.77133447T>G | NCBI36 |
| NG_028282.1:g.24417A>C , LRG_371:g.24417A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216484.7:c.162A>C MANE Select | ENSP00000216484.2:p.Leu54= | |
| ENST00000216484.6:c.162A>C | ENSP00000216484.2:p.Leu54= | |
| ENST00000557566.1:n.1A>C | ||
| NM_004863.3:c.162A>C , LRG_371t1:c.162A>C | NP_004854.1:p.Leu54= | |
| XM_011537384.1:c.162A>C | XP_011535686.1:p.Leu54= | |
| XM_011537384.2:c.162A>C | XP_011535686.1:p.Leu54= | |
| NM_004863.4:c.162A>C MANE Select | NP_004854.1:p.Leu54= |