Linked Data
ClinVar Variation Id:
425121
dbSNP Id:
rs150656720
ExAC:
17:6337375 G / C
gnomAD v2:
17-6337375-G-C
gnomAD v3:
17-6434055-G-C
gnomAD v4:
17-6434055-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6434055G>C , CM000679.2:g.6434055G>C | GRCh38 |
| NC_000017.10:g.6337375G>C , CM000679.1:g.6337375G>C | GRCh37 |
| NC_000017.9:g.6278099G>C | NCBI36 |
| NG_008474.1:g.6145C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381129.8:c.140C>G MANE Select | ENSP00000370521.3:p.Thr47Arg | |
| ENST00000250087.9:c.140C>G | ENSP00000250087.5:p.Thr47Arg | |
| ENST00000381128.2:c.*12C>G | ENSP00000370520.2:n.*12C>G | |
| ENST00000381129.7:c.140C>G | ENSP00000370521.3:p.Thr47Arg | |
| ENST00000570466.5:c.97-23C>G | ENSP00000461287.1:n.97-23C>G | |
| ENST00000570584.5:c.115C>G | ||
| ENST00000571740.5:c.140C>G | ENSP00000460134.1:p.Thr47Arg | |
| ENST00000574506.5:c.104C>G | ENSP00000458456.1:p.Thr35Arg | |
| ENST00000574913.1:c.140C>G | ENSP00000460672.1:p.Thr47Arg | |
| ENST00000575265.5:c.140C>G | ENSP00000459673.1:p.Thr47Arg | |
| ENST00000576307.5:c.96+954C>G | ENSP00000459522.1:n.96+954C>G | |
| ENST00000576776.5:c.140C>G | ENSP00000460827.1:p.Thr47Arg | |
| ENST00000621374.4:c.140C>G | ENSP00000481337.1:p.Thr47Arg | |
| NM_001033054.2:c.140C>G | NP_001028226.1:p.Thr47Arg | |
| NM_001033055.2:c.96+954C>G | NP_001028227.1:n.96+954C>G | |
| NM_001285399.2:c.104C>G | NP_001272328.1:p.Thr35Arg | |
| NM_001285400.2:c.97-23C>G | NP_001272329.1:n.97-23C>G | |
| NM_001285401.2:c.140C>G | NP_001272330.1:p.Thr47Arg | |
| NM_001285402.1:c.23C>G | NP_001272331.1:p.Thr8Arg | |
| NM_001285403.2:c.140C>G | NP_001272332.1:p.Thr47Arg | |
| NM_014336.4:c.140C>G | NP_055151.3:p.Thr47Arg | |
| NM_001033054.3:c.140C>G | NP_001028226.1:p.Thr47Arg | |
| NM_001033055.3:c.96+954C>G | NP_001028227.1:n.96+954C>G | |
| NM_001285399.3:c.104C>G | NP_001272328.1:p.Thr35Arg | |
| NM_001285400.3:c.97-23C>G | NP_001272329.1:n.97-23C>G | |
| NM_001285401.3:c.140C>G | NP_001272330.1:p.Thr47Arg | |
| NM_001285402.2:c.23C>G | NP_001272331.1:p.Thr8Arg | |
| NM_001285403.3:c.140C>G | NP_001272332.1:p.Thr47Arg | |
| NM_014336.5:c.140C>G MANE Select | NP_055151.3:p.Thr47Arg | |
| NM_001285403.4:c.140C>G | NP_001272332.1:p.Thr47Arg |