Linked Data
ClinVar Variation Id:
2358
ClinVar RCV Id:
RCV000002452
RCV000412796
RCV000627017
RCV000763297
RCV000824799
RCV000984234
RCV001075725
RCV001199595
dbSNP Id:
rs111033272
ExAC:
1:216498841 G / T
gnomAD v2:
1-216498841-G-T
gnomAD v3:
1-216325499-G-T
gnomAD v4:
1-216325499-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.216325499G>T , CM000663.2:g.216325499G>T | GRCh38 |
| NC_000001.10:g.216498841G>T , CM000663.1:g.216498841G>T | GRCh37 |
| NC_000001.9:g.214565464G>T | NCBI36 |
| NG_009497.1:g.102898C>A | |
| NG_009497.2:g.102950C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307340.8:c.949C>A MANE Select | ENSP00000305941.3:p.Arg317= | |
| ENST00000674083.1:c.949C>A | ENSP00000501296.1:p.Arg317= | |
| ENST00000307340.7:c.949C>A | ENSP00000305941.3:p.Arg317= | |
| ENST00000366942.3:c.949C>A | ENSP00000355909.3:p.Arg317= | |
| NM_007123.5:c.949C>A | NP_009054.5:p.Arg317= | |
| NM_206933.2:c.949C>A | NP_996816.2:p.Arg317= | |
| NM_206933.3:c.949C>A | NP_996816.2:p.Arg317= | |
| NM_007123.6:c.949C>A | NP_009054.6:p.Arg317= | |
| NM_206933.4:c.949C>A MANE Select | NP_996816.3:p.Arg317= |