Linked Data
dbSNP Id:
rs34592426
ExAC:
6:31239090 G / C
gnomAD v2:
6-31239090-G-C
gnomAD v3:
6-31271313-G-C
gnomAD v4:
6-31271313-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271313G>C , CM000668.2:g.31271313G>C | GRCh38 |
| NC_000006.11:g.31239090G>C , CM000668.1:g.31239090G>C | GRCh37 |
| NC_000006.10:g.31347069G>C | NCBI36 |
| NG_029422.2:g.5819C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.379C>G MANE Select | ENSP00000365402.5:p.Leu127Val | |
| ENST00000376228.9:c.379C>G | ENSP00000365402.5:p.Leu127Val | |
| ENST00000376237.8:c.362C>G | ENSP00000365412.4:p.Pro121Arg | |
| ENST00000383329.7:c.379C>G | ENSP00000372819.3:p.Leu127Val | |
| ENST00000415537.1:c.377C>G | ||
| ENST00000484378.1:n.648C>G | ||
| ENST00000487245.5:n.738C>G | ||
| ENST00000495835.1:n.568C>G | ||
| NM_002117.5:c.379C>G | NP_002108.4:p.Leu127Val | |
| NM_002117.6:c.379C>G MANE Select | NP_002108.4:p.Leu127Val |