Linked Data
ClinVar Variation Id:
1384409
ClinVar RCV Id:
RCV001895974
dbSNP Id:
rs748730057
ExAC:
3:119133239 G / C
gnomAD v2:
3-119133239-G-C
gnomAD v3:
3-119414392-G-C
gnomAD v4:
3-119414392-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119414392G>C , CM000665.2:g.119414392G>C | GRCh38 |
| NC_000003.11:g.119133239G>C , CM000665.1:g.119133239G>C | GRCh37 |
| NC_000003.10:g.120615929G>C | NCBI36 |
| NG_007665.2:g.125020G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264245.9:c.2463G>C MANE Select | ENSP00000264245.4:p.Gln821His | |
| ENST00000264245.8:c.2463G>C | ENSP00000264245.4:p.Gln821His | |
| NM_020754.3:c.2463G>C | NP_065805.2:p.Gln821His | |
| XM_005247671.3:c.2370G>C | XP_005247728.1:p.Gln790His | |
| XM_006713714.2:c.2403G>C | XP_006713777.1:p.Gln801His | |
| XM_006713714.3:c.2403G>C | XP_006713777.1:p.Gln801His | |
| XM_017006955.1:c.1971G>C | XP_016862444.1:p.Gln657His | |
| NM_020754.4:c.2463G>C MANE Select | NP_065805.2:p.Gln821His |