Linked Data
dbSNP Id:
rs181844199
ExAC:
6:10529379 G / C
gnomAD v2:
6-10529379-G-C
gnomAD v3:
6-10529146-G-C
gnomAD v4:
6-10529146-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.10529146G>C , CM000668.2:g.10529146G>C | GRCh38 |
| NC_000006.11:g.10529379G>C , CM000668.1:g.10529379G>C | GRCh37 |
| NC_000006.10:g.10637365G>C | NCBI36 |
| NG_007469.3:g.41924G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397423.7:n.484+305G>C | ||
| ENST00000483204.2:n.811G>C | ||
| ENST00000495262.7:c.235G>C MANE Select | ENSP00000419411.2:p.Val79Leu | |
| ENST00000379597.7:c.235G>C | ENSP00000368917.3:p.Val79Leu | |
| ENST00000397423.6:n.484+305G>C | ||
| ENST00000410107.5:c.67+19988G>C | ENSP00000386321.1:n.67+19988G>C | |
| ENST00000474518.1:n.508+305G>C | ||
| ENST00000474983.5:n.812G>C | ||
| ENST00000475577.5:n.254+1486G>C | ||
| ENST00000483204.1:n.811G>C | ||
| ENST00000489225.5:n.283+36215G>C | ||
| ENST00000489819.5:n.175+7552G>C | ||
| ENST00000495262.5:c.235G>C | ENSP00000419411.1:p.Val79Leu | |
| NM_145649.4:c.235G>C | NP_663624.1:p.Val79Leu | |
| XM_005248999.2:c.4G>C | XP_005249056.1:p.Val2Leu | |
| XM_006715052.2:c.235G>C | XP_006715115.1:p.Val79Leu | |
| XM_006715053.2:c.235G>C | XP_006715116.1:p.Val79Leu | |
| XM_011514465.1:c.235G>C | XP_011512767.1:p.Val79Leu | |
| XM_011514467.1:c.4G>C | XP_011512769.1:p.Val2Leu | |
| XM_011514468.1:c.235G>C | XP_011512770.1:p.Val79Leu | |
| XR_926136.1:n.786G>C | ||
| XM_006715052.3:c.235G>C | XP_006715115.1:p.Val79Leu | |
| XM_011514468.3:c.235G>C | XP_011512770.1:p.Val79Leu | |
| XM_017010732.2:c.235G>C | XP_016866221.1:p.Val79Leu | |
| XR_002956275.1:n.786G>C | ||
| XR_926136.2:n.784G>C | ||
| NM_001374747.1:c.235G>C | NP_001361676.1:p.Val79Leu | |
| NM_145649.5:c.235G>C MANE Select | NP_663624.1:p.Val79Leu |