Linked Data
ClinVar Variation Id:
21171
dbSNP Id:
rs137853859
ExAC:
1:24124208 G / A
gnomAD v2:
1-24124208-G-A
gnomAD v3:
1-23797718-G-A
gnomAD v4:
1-23797718-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23797718G>A , CM000663.2:g.23797718G>A | GRCh38 |
| NC_000001.10:g.24124208G>A , CM000663.1:g.24124208G>A | GRCh37 |
| NC_000001.9:g.23996795G>A | NCBI36 |
| NG_007068.1:g.8087C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617979.5:c.505C>T MANE Select | ENSP00000483375.1:p.Arg169Trp | |
| ENST00000374497.7:c.505C>T | ENSP00000363621.3:p.Arg169Trp | |
| ENST00000418277.5:c.313C>T | ENSP00000414719.1:p.Arg105Trp | |
| ENST00000425913.5:c.505C>T | ENSP00000393359.1:p.Arg169Trp | |
| ENST00000429356.5:c.313C>T | ENSP00000398585.1:p.Arg105Trp | |
| ENST00000445705.1:c.505C>T | ENSP00000398257.1:p.Arg169Trp | |
| ENST00000459934.5:n.623C>T | ||
| ENST00000467493.5:n.965C>T | ||
| ENST00000470949.5:n.450C>T | ||
| ENST00000481736.5:n.909C>T | ||
| ENST00000617979.4:c.505C>T | ENSP00000483375.1:p.Arg169Trp | |
| NM_000403.3:c.505C>T | NP_000394.2:p.Arg169Trp | |
| NM_001008216.1:c.505C>T | NP_001008217.1:p.Arg169Trp | |
| NM_001127621.1:c.505C>T | NP_001121093.1:p.Arg169Trp | |
| NM_001008216.2:c.505C>T MANE Select | NP_001008217.1:p.Arg169Trp | |
| NM_000403.4:c.505C>T | NP_000394.2:p.Arg169Trp | |
| NM_001127621.2:c.505C>T | NP_001121093.1:p.Arg169Trp |