Linked Data
ClinVar Variation Id:
650146
dbSNP Id:
rs200420067
ExAC:
4:178360748 G / C
gnomAD v2:
4-178360748-G-C
gnomAD v3:
4-177439594-G-C
gnomAD v4:
4-177439594-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177439594G>C , CM000666.2:g.177439594G>C | GRCh38 |
| NC_000004.11:g.178360748G>C , CM000666.1:g.178360748G>C | GRCh37 |
| NC_000004.10:g.178597742G>C | NCBI36 |
| NG_011845.2:g.7910C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264595.7:c.376C>G MANE Select | ENSP00000264595.2:p.Leu126Val | |
| ENST00000264595.6:c.376C>G | ENSP00000264595.2:p.Leu126Val | |
| ENST00000502310.5:c.31C>G | ENSP00000423798.1:p.Leu11Val | |
| ENST00000506853.5:n.410C>G | ||
| ENST00000510635.1:c.72C>G | ||
| ENST00000510955.5:n.315+679C>G | ||
| NM_000027.3:c.376C>G | NP_000018.2:p.Leu126Val | |
| NM_001171988.1:c.376C>G | NP_001165459.1:p.Leu126Val | |
| NR_033655.1:n.504C>G | ||
| XM_006714123.2:c.376C>G | XP_006714186.1:p.Leu126Val | |
| XR_001741155.2:n.470C>G | ||
| NM_000027.4:c.376C>G MANE Select | NP_000018.2:p.Leu126Val | |
| NM_001171988.2:c.376C>G | NP_001165459.1:p.Leu126Val | |
| NR_033655.2:n.438C>G |