Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136046373G>C , CM000667.2:g.136046373G>C | GRCh38 |
| NC_000005.9:g.135382062G>C , CM000667.1:g.135382062G>C | GRCh37 |
| NC_000005.8:g.135409961G>C | NCBI36 |
| NG_012646.1:g.22479G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442011.7:c.337G>C MANE Select | ENSP00000416330.2:p.Val113Leu | |
| ENST00000442011.6:c.337G>C | ENSP00000416330.2:p.Val113Leu | |
| ENST00000504185.5:n.494G>C | ||
| ENST00000506699.5:n.402G>C | ||
| ENST00000507018.5:c.254G>C | ||
| ENST00000515433.1:n.629G>C | ||
| NM_000358.2:c.337G>C | NP_000349.1:p.Val113Leu | |
| NM_000358.3:c.337G>C MANE Select | NP_000349.1:p.Val113Leu |