Linked Data
ClinVar Variation Id:
402961
dbSNP Id:
rs11554137
ExAC:
2:209113192 G / A
gnomAD v2:
2-209113192-G-A
gnomAD v3:
2-208248468-G-A
gnomAD v4:
2-208248468-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.208248468G>A , CM000664.2:g.208248468G>A | GRCh38 |
| NC_000002.11:g.209113192G>A , CM000664.1:g.209113192G>A | GRCh37 |
| NC_000002.10:g.208821437G>A | NCBI36 |
| NG_023319.2:g.22607C>T , LRG_610:g.22607C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000345146.7:c.315C>T MANE Select | ENSP00000260985.2:p.Gly105= | |
| ENST00000345146.6:c.315C>T | ENSP00000260985.2:p.Gly105= | |
| ENST00000415282.5:c.315C>T | ENSP00000391075.1:p.Gly105= | |
| ENST00000415913.5:c.315C>T | ENSP00000390265.1:p.Gly105= | |
| ENST00000446179.5:c.315C>T | ENSP00000410513.1:p.Gly105= | |
| ENST00000462386.5:n.528C>T | ||
| NM_001282386.1:c.315C>T , LRG_610t3:c.315C>T | NP_001269315.1:p.Gly105= | |
| NM_001282387.1:c.315C>T , LRG_610t2:c.315C>T | NP_001269316.1:p.Gly105= | |
| NM_005896.3:c.315C>T , LRG_610t1:c.315C>T | NP_005887.2:p.Gly105= | |
| NM_005896.4:c.315C>T MANE Select | NP_005887.2:p.Gly105= |