Linked Data
gnomAD v4:
6-31271127-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271127C>G , CM000668.2:g.31271127C>G | GRCh38 |
| NC_000006.11:g.31238904C>G , CM000668.1:g.31238904C>G | GRCh37 |
| NC_000006.10:g.31346883C>G | NCBI36 |
| NG_029422.2:g.6005G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.565G>C MANE Select | ENSP00000365402.5:p.Val189Leu | |
| ENST00000376228.9:c.565G>C | ENSP00000365402.5:p.Val189Leu | |
| ENST00000376237.8:c.*152G>C | ENSP00000365412.4:n.*152G>C | |
| ENST00000383329.7:c.565G>C | ENSP00000372819.3:p.Val189Leu | |
| ENST00000415537.1:c.563G>C | ||
| ENST00000484378.1:n.834G>C | ||
| ENST00000487245.5:n.924G>C | ||
| ENST00000495835.1:n.754G>C | ||
| NM_002117.5:c.565G>C | NP_002108.4:p.Val189Leu | |
| NM_002117.6:c.565G>C MANE Select | NP_002108.4:p.Val189Leu |