Linked Data
ClinVar Variation Id:
2684154
ClinVar RCV Id:
RCV003482650
dbSNP Id:
rs63751126
ExAC:
3:87302948 A / T
gnomAD v2:
3-87302948-A-T
gnomAD v3:
3-87253798-A-T
gnomAD v4:
3-87253798-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.87253798A>T , CM000665.2:g.87253798A>T | GRCh38 |
| NC_000003.11:g.87302948A>T , CM000665.1:g.87302948A>T | GRCh37 |
| NC_000003.10:g.87385638A>T | NCBI36 |
| NG_007885.1:g.31536A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263780.9:c.618A>T MANE Select | ENSP00000263780.4:p.Gln206His | |
| ENST00000472024.3:c.666A>T | ENSP00000480032.2:p.Gln222His | |
| ENST00000676705.1:c.666A>T | ENSP00000504098.1:p.Gln222His | |
| ENST00000677929.1:n.4282A>T | ||
| ENST00000678859.1:n.4367A>T | ||
| ENST00000263780.8:c.618A>T | ENSP00000263780.4:p.Gln206His | |
| ENST00000466696.1:n.549A>T | ||
| ENST00000471660.5:c.495A>T | ENSP00000419998.1:p.Gln165His | |
| ENST00000494980.5:c.528A>T | ENSP00000418920.1:p.Gln176His | |
| NM_001244644.1:c.495A>T | NP_001231573.1:p.Gln165His | |
| NM_014043.3:c.618A>T | NP_054762.2:p.Gln206His | |
| XM_011533576.1:c.666A>T | XP_011531878.1:p.Gln222His | |
| XM_011533576.2:c.666A>T | XP_011531878.1:p.Gln222His | |
| NM_014043.4:c.618A>T MANE Select | NP_054762.2:p.Gln206His | |
| NM_001244644.2:c.495A>T | NP_001231573.1:p.Gln165His |