Linked Data
ClinVar Variation Id:
2428226
ClinVar RCV Id:
RCV003117197
dbSNP Id:
rs199475612
gnomAD v3:
12-102866634-T-C
gnomAD v4:
12-102866634-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102866634T>C , CM000674.2:g.102866634T>C | GRCh38 |
| NC_000012.11:g.103260412T>C , CM000674.1:g.103260412T>C | GRCh37 |
| NC_000012.10:g.101784542T>C | NCBI36 |
| NG_008690.1:g.55969A>G | |
| NG_008690.2:g.96777A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.471A>G MANE Select | ENSP00000448059.1:p.Arg157= | |
| ENST00000307000.7:c.456A>G | ENSP00000303500.2:p.Arg152= | |
| ENST00000549111.5:n.567A>G | ||
| ENST00000551988.5:n.530+10828A>G | ||
| ENST00000553106.5:c.471A>G | ENSP00000448059.1:p.Arg157= | |
| NM_000277.1:c.471A>G | NP_000268.1:p.Arg157= | |
| XM_011538422.1:c.471A>G | XP_011536724.1:p.Arg157= | |
| NM_000277.2:c.471A>G | NP_000268.1:p.Arg157= | |
| NM_001354304.1:c.471A>G | NP_001341233.1:p.Arg157= | |
| XM_017019370.2:c.471A>G | XP_016874859.1:p.Arg157= | |
| NM_000277.3:c.471A>G MANE Select | NP_000268.1:p.Arg157= | |
| NM_001354304.2:c.471A>G | NP_001341233.1:p.Arg157= |