Linked Data
ClinVar Variation Id:
1065380
ClinVar RCV Id:
RCV001375898
dbSNP Id:
rs2136649225
gnomAD v4:
12-102855158-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102855158T>G , CM000674.2:g.102855158T>G | GRCh38 |
| NC_000012.11:g.103248936T>G , CM000674.1:g.103248936T>G | GRCh37 |
| NC_000012.10:g.101773066T>G | NCBI36 |
| NG_008690.1:g.67445A>C | |
| NG_008690.2:g.108253A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.684A>C MANE Select | ENSP00000448059.1:p.Glu228Asp | |
| ENST00000307000.7:c.669A>C | ENSP00000303500.2:p.Glu223Asp | |
| ENST00000549111.5:n.780A>C | ||
| ENST00000553106.5:c.684A>C | ENSP00000448059.1:p.Glu228Asp | |
| NM_000277.1:c.684A>C | NP_000268.1:p.Glu228Asp | |
| XM_011538422.1:c.684A>C | XP_011536724.1:p.Glu228Asp | |
| NM_000277.2:c.684A>C | NP_000268.1:p.Glu228Asp | |
| NM_001354304.1:c.684A>C | NP_001341233.1:p.Glu228Asp | |
| XM_017019370.2:c.684A>C | XP_016874859.1:p.Glu228Asp | |
| NM_000277.3:c.684A>C MANE Select | NP_000268.1:p.Glu228Asp | |
| NM_001354304.2:c.684A>C | NP_001341233.1:p.Glu228Asp |