Linked Data
ClinVar Variation Id:
1157163
ClinVar RCV Id:
RCV001500105
dbSNP Id:
rs373782868
ExAC:
12:103248978 T / C
gnomAD v2:
12-103248978-T-C
gnomAD v3:
12-102855200-T-C
gnomAD v4:
12-102855200-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102855200T>C , CM000674.2:g.102855200T>C | GRCh38 |
| NC_000012.11:g.103248978T>C , CM000674.1:g.103248978T>C | GRCh37 |
| NC_000012.10:g.101773108T>C | NCBI36 |
| NG_008690.1:g.67403A>G | |
| NG_008690.2:g.108211A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.642A>G MANE Select | ENSP00000448059.1:p.Glu214= | |
| ENST00000307000.7:c.627A>G | ENSP00000303500.2:p.Glu209= | |
| ENST00000549111.5:n.738A>G | ||
| ENST00000553106.5:c.642A>G | ENSP00000448059.1:p.Glu214= | |
| NM_000277.1:c.642A>G | NP_000268.1:p.Glu214= | |
| XM_011538422.1:c.642A>G | XP_011536724.1:p.Glu214= | |
| NM_000277.2:c.642A>G | NP_000268.1:p.Glu214= | |
| NM_001354304.1:c.642A>G | NP_001341233.1:p.Glu214= | |
| XM_017019370.2:c.642A>G | XP_016874859.1:p.Glu214= | |
| NM_000277.3:c.642A>G MANE Select | NP_000268.1:p.Glu214= | |
| NM_001354304.2:c.642A>G | NP_001341233.1:p.Glu214= |