Linked Data
ClinVar Variation Id:
537736
dbSNP Id:
rs769666695
ExAC:
1:160011812 G / A
gnomAD v2:
1-160011812-G-A
gnomAD v3:
1-160042022-G-A
gnomAD v4:
1-160042022-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160042022G>A , CM000663.2:g.160042022G>A | GRCh38 |
| NC_000001.10:g.160011812G>A , CM000663.1:g.160011812G>A | GRCh37 |
| NC_000001.9:g.158278436G>A | NCBI36 |
| NG_016411.1:g.33150C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509700.2:c.483C>T | ||
| ENST00000636689.1:n.95-2674C>T | ||
| ENST00000637644.1:c.487+24C>T | ENSP00000490282.1:n.487+24C>T | |
| ENST00000638728.1:c.511C>T | ENSP00000492619.1:p.Arg171Trp | |
| ENST00000638840.1:c.233C>T | ||
| ENST00000638868.1:c.511C>T | ENSP00000491250.1:p.Arg171Trp | |
| ENST00000639408.1:c.487+24C>T | ENSP00000491635.1:n.487+24C>T | |
| ENST00000640017.1:c.481C>T | ENSP00000491337.1:p.Arg161Trp | |
| ENST00000644903.1:c.511C>T MANE Select | ENSP00000495557.1:p.Arg171Trp | |
| ENST00000368089.3:c.511C>T | ENSP00000357068.3:p.Arg171Trp | |
| ENST00000509700.1:n.274C>T | ||
| NM_002241.4:c.511C>T | NP_002232.2:p.Arg171Trp | |
| NM_002241.5:c.511C>T MANE Select | NP_002232.2:p.Arg171Trp |