Linked Data
ClinVar Variation Id:
2361
dbSNP Id:
rs111033334
ExAC:
1:216420527 G / A
gnomAD v2:
1-216420527-G-A
gnomAD v4:
1-216247185-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216247185G>A , CM000663.2:g.216247185G>A | GRCh38 |
| NC_000001.10:g.216420527G>A , CM000663.1:g.216420527G>A | GRCh37 |
| NC_000001.9:g.214487150G>A | NCBI36 |
| NG_009497.1:g.181212C>T | |
| NG_009497.2:g.181264C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307340.8:c.2209C>T MANE Select | ENSP00000305941.3:p.Arg737Ter | |
| ENST00000674083.1:c.2209C>T | ENSP00000501296.1:p.Arg737Ter | |
| ENST00000307340.7:c.2209C>T | ENSP00000305941.3:p.Arg737Ter | |
| ENST00000366942.3:c.2209C>T | ENSP00000355909.3:p.Arg737Ter | |
| NM_007123.5:c.2209C>T | NP_009054.5:p.Arg737Ter | |
| NM_206933.2:c.2209C>T | NP_996816.2:p.Arg737Ter | |
| NM_206933.3:c.2209C>T | NP_996816.2:p.Arg737Ter | |
| NM_007123.6:c.2209C>T | NP_009054.6:p.Arg737Ter | |
| NM_206933.4:c.2209C>T MANE Select | NP_996816.3:p.Arg737Ter |