Linked Data
ClinVar Variation Id:
103256
ClinVar RCV Id:
RCV000089516
dbSNP Id:
rs199475802
ExAC:
11:280520 G / C
gnomAD v2:
11-280520-G-C
gnomAD v3:
11-280520-G-C
gnomAD v4:
11-280520-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.280520G>C , CM000673.2:g.280520G>C | GRCh38 |
| NC_000011.9:g.280520G>C , CM000673.1:g.280520G>C | GRCh37 |
| NC_000011.8:g.270520G>C | NCBI36 |
| NG_050573.1:g.7156G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000534750.6:c.786G>C MANE Select | ENSP00000433617.1:p.Ala262= | |
| ENST00000312165.5:c.786G>C | ENSP00000309767.4:p.Ala262= | |
| ENST00000534750.5:c.786G>C | ENSP00000433617.1:p.Ala262= | |
| NM_001276700.1:c.786G>C | NP_001263629.1:p.Ala262= | |
| NM_138329.2:c.786G>C | NP_612202.2:p.Ala262= | |
| XM_011519931.1:c.786G>C | XP_011518233.1:p.Ala262= | |
| XR_930848.1:n.991G>C | ||
| XM_017017253.2:c.300G>C | XP_016872742.1:p.Ala100= | |
| XR_002957127.1:n.991G>C | ||
| NM_001276700.2:c.786G>C MANE Select | NP_001263629.1:p.Ala262= |