Linked Data
ClinVar Variation Id:
228411
ClinVar RCV Id:
RCV000213203
RCV000668930
RCV000822071
RCV001074876
RCV001003287
RCV001273812
RCV003454598
dbSNP Id:
rs397517963
ExAC:
1:216498790 G / A
gnomAD v2:
1-216498790-G-A
gnomAD v3:
1-216325448-G-A
gnomAD v4:
1-216325448-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216325448G>A , CM000663.2:g.216325448G>A | GRCh38 |
| NC_000001.10:g.216498790G>A , CM000663.1:g.216498790G>A | GRCh37 |
| NC_000001.9:g.214565413G>A | NCBI36 |
| NG_009497.1:g.102949C>T | |
| NG_009497.2:g.103001C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.1000C>T MANE Select | ENSP00000305941.3:p.Arg334Trp | |
| ENST00000674083.1:c.1000C>T | ENSP00000501296.1:p.Arg334Trp | |
| ENST00000307340.7:c.1000C>T | ENSP00000305941.3:p.Arg334Trp | |
| ENST00000366942.3:c.1000C>T | ENSP00000355909.3:p.Arg334Trp | |
| NM_007123.5:c.1000C>T | NP_009054.5:p.Arg334Trp | |
| NM_206933.2:c.1000C>T | NP_996816.2:p.Arg334Trp | |
| NM_206933.3:c.1000C>T | NP_996816.2:p.Arg334Trp | |
| NM_007123.6:c.1000C>T | NP_009054.6:p.Arg334Trp | |
| NM_206933.4:c.1000C>T MANE Select | NP_996816.3:p.Arg334Trp |