Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.54468858C>G , CM000685.2:g.54468858C>G | GRCh38 |
| NC_000023.10:g.54495291C>G , CM000685.1:g.54495291C>G | GRCh37 |
| NC_000023.9:g.54512016C>G | NCBI36 |
| NG_008054.1:g.32309G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375135.4:c.1120G>C MANE Select | ENSP00000364277.3:p.Val374Leu | |
| ENST00000375135.3:c.1120G>C | ENSP00000364277.3:p.Val374Leu | |
| NM_004463.2:c.1120G>C | NP_004454.2:p.Val374Leu | |
| NM_004463.3:c.1120G>C MANE Select | NP_004454.2:p.Val374Leu |