Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.137199532C>G , CM000671.2:g.137199532C>G | GRCh38 |
| NC_000009.11:g.140093984C>G , CM000671.1:g.140093984C>G | GRCh37 |
| NC_000009.10:g.139213805C>G | NCBI36 |
| NG_027801.1:g.6180G>C | |
| NG_027801.2:g.9662G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409012.6:c.1180G>C MANE Select | ENSP00000387100.4:p.Val394Leu | |
| ENST00000333046.8:c.574G>C | ENSP00000327617.4:p.Val192Leu | |
| ENST00000409012.4:c.1180G>C | ENSP00000387100.4:p.Val394Leu | |
| ENST00000541945.1:n.90+4572G>C | ||
| NM_001128228.2:c.1180G>C | NP_001121700.2:p.Val394Leu | |
| NM_001128228.3:c.1180G>C MANE Select | NP_001121700.2:p.Val394Leu |