Linked Data
ClinVar Variation Id:
528226
dbSNP Id:
rs140686447
ExAC:
10:90988006 G / A
gnomAD v2:
10-90988006-G-A
gnomAD v3:
10-89228249-G-A
gnomAD v4:
10-89228249-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.89228249G>A , CM000672.2:g.89228249G>A | GRCh38 |
| NC_000010.10:g.90988006G>A , CM000672.1:g.90988006G>A | GRCh37 |
| NC_000010.9:g.90977986G>A | NCBI36 |
| NG_008194.1:g.28655C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336233.10:c.379C>T MANE Select | ENSP00000337354.5:p.Arg127Trp | |
| ENST00000282673.5:c.379C>T | ENSP00000282673.4:p.Arg127Trp | |
| ENST00000336233.9:c.379C>T | ENSP00000337354.5:p.Arg127Trp | |
| ENST00000371837.5:c.211C>T | ENSP00000360903.1:p.Arg71Trp | |
| ENST00000428800.5:c.379C>T | ENSP00000388415.1:p.Arg127Trp | |
| ENST00000456827.5:c.31C>T | ENSP00000413019.2:p.Arg11Trp | |
| NM_000235.3:c.379C>T | NP_000226.2:p.Arg127Trp | |
| NM_001127605.2:c.379C>T | NP_001121077.1:p.Arg127Trp | |
| NM_001288979.1:c.31C>T | NP_001275908.1:p.Arg11Trp | |
| XM_024448023.1:c.379C>T | XP_024303791.1:p.Arg127Trp | |
| NM_000235.4:c.379C>T MANE Select | NP_000226.2:p.Arg127Trp | |
| NM_001127605.3:c.379C>T | NP_001121077.1:p.Arg127Trp | |
| NM_001288979.2:c.31C>T | NP_001275908.1:p.Arg11Trp |