Linked Data
ClinVar Variation Id:
371502
ClinVar RCV Id:
RCV000409498
dbSNP Id:
rs767159114
ExAC:
3:120347364 C / G
gnomAD v4:
3-120628517-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120628517C>G , CM000665.2:g.120628517C>G | GRCh38 |
| NC_000003.11:g.120347364C>G , CM000665.1:g.120347364C>G | GRCh37 |
| NC_000003.10:g.121830054C>G | NCBI36 |
| NG_011957.1:g.58965G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283871.10:c.1201G>C MANE Select | ENSP00000283871.5:p.Glu401Gln | |
| ENST00000283871.9:c.1201G>C | ENSP00000283871.5:p.Glu401Gln | |
| ENST00000492108.5:c.480G>C | ENSP00000419838.1:n.480G>C | |
| NM_000187.3:c.1201G>C | NP_000178.2:p.Glu401Gln | |
| XM_005247412.1:c.976G>C | XP_005247469.1:p.Glu326Gln | |
| XM_005247412.2:c.976G>C | XP_005247469.1:p.Glu326Gln | |
| XM_017006277.2:c.778G>C | XP_016861766.1:p.Glu260Gln | |
| NM_000187.4:c.1201G>C MANE Select | NP_000178.2:p.Glu401Gln |