Linked Data
ClinVar Variation Id:
1401496
ClinVar RCV Id:
RCV001912892
dbSNP Id:
rs752976883
gnomAD v4:
16-77289264-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.77289264C>G , CM000678.2:g.77289264C>G | GRCh38 |
| NC_000016.9:g.77323161C>G , CM000678.1:g.77323161C>G | GRCh37 |
| NC_000016.8:g.75880662C>G | NCBI36 |
| NG_031879.1:g.150851G>C | |
| NG_031879.2:g.150851G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282849.10:c.3550G>C MANE Select | ENSP00000282849.5:p.Glu1184Gln | |
| ENST00000282849.9:c.3550G>C | ENSP00000282849.5:p.Glu1184Gln | |
| ENST00000562332.1:c.96G>C | ||
| NM_199355.2:c.3550G>C | NP_955387.1:p.Glu1184Gln | |
| XM_006721158.2:c.1462G>C | XP_006721221.1:p.Glu488Gln | |
| XM_011522923.1:c.3034G>C | XP_011521225.1:p.Glu1012Gln | |
| XM_011522924.1:c.2821G>C | XP_011521226.1:p.Glu941Gln | |
| NM_001326358.1:c.3034G>C | NP_001313287.1:p.Glu1012Gln | |
| NM_199355.3:c.3550G>C | NP_955387.1:p.Glu1184Gln | |
| XM_011522924.2:c.2821G>C | XP_011521226.1:p.Glu941Gln | |
| XM_017022988.2:c.2314G>C | XP_016878477.1:p.Glu772Gln | |
| XM_017022989.1:c.2314G>C | XP_016878478.1:p.Glu772Gln | |
| NM_199355.4:c.3550G>C MANE Select | NP_955387.1:p.Glu1184Gln | |
| NM_001326358.2:c.3034G>C | NP_001313287.1:p.Glu1012Gln |