Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43928887G>C , CM000684.2:g.43928887G>C | GRCh38 |
| NC_000022.10:g.44324767G>C , CM000684.1:g.44324767G>C | GRCh37 |
| NC_000022.9:g.42656100G>C | NCBI36 |
| NG_008631.1:g.10149G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216180.8:c.484G>C MANE Select | ENSP00000216180.3:p.Val162Leu | |
| ENST00000216180.7:c.484G>C | ENSP00000216180.3:p.Val162Leu | |
| ENST00000406117.6:c.*116G>C | ENSP00000384668.2:n.*116G>C | |
| ENST00000423180.2:c.472G>C | ENSP00000397987.2:p.Val158Leu | |
| ENST00000478713.1:n.518G>C | ||
| NM_025225.2:c.484G>C | NP_079501.2:p.Val162Leu | |
| NM_025225.3:c.484G>C MANE Select | NP_079501.2:p.Val162Leu |