Linked Data
ClinVar Variation Id:
2486093
ClinVar RCV Id:
RCV003214730
dbSNP Id:
rs772728779
ExAC:
5:236572 G / C
gnomAD v2:
5-236572-G-C
gnomAD v3:
5-236457-G-C
gnomAD v4:
5-236457-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.236457G>C , CM000667.2:g.236457G>C | GRCh38 |
| NC_000005.9:g.236572G>C , CM000667.1:g.236572G>C | GRCh37 |
| NC_000005.8:g.289572G>C | NCBI36 |
| NG_012339.1:g.23217G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264932.11:c.1290G>C MANE Select | ENSP00000264932.6:p.Gln430His | |
| ENST00000651543.1:c.*23G>C | ENSP00000499215.1:n.*23G>C | |
| ENST00000264932.10:c.1290G>C | ENSP00000264932.6:p.Gln430His | |
| ENST00000504309.5:c.1290G>C | ENSP00000426514.1:p.Gln430His | |
| ENST00000505555.5:n.1330G>C | ||
| ENST00000510361.5:c.1146G>C | ENSP00000427703.1:p.Gln382His | |
| ENST00000511810.5:n.2037G>C | ||
| ENST00000512962.5:n.876G>C | ||
| ENST00000514027.5:n.1245G>C | ||
| ENST00000515752.5:n.876G>C | ||
| ENST00000617470.4:c.855G>C | ENSP00000484230.1:p.Gln285His | |
| NM_001294332.1:c.1146G>C | NP_001281261.1:p.Gln382His | |
| NM_004168.3:c.1290G>C | NP_004159.2:p.Gln430His | |
| XM_005248331.2:c.1290G>C | XP_005248388.1:p.Gln430His | |
| XM_011514072.1:c.1290G>C | XP_011512374.1:p.Gln430His | |
| XM_011514073.1:c.1290G>C | XP_011512375.1:p.Gln430His | |
| XR_925638.1:n.1423G>C | ||
| NM_001330758.1:c.1290G>C | NP_001317687.1:p.Gln430His | |
| XM_011514072.2:c.1290G>C | XP_011512374.1:p.Gln430His | |
| XM_011514073.2:c.1290G>C | XP_011512375.1:p.Gln430His | |
| XM_017009685.2:c.1290G>C | XP_016865174.1:p.Gln430His | |
| XM_024446143.1:c.1146G>C | XP_024301911.1:p.Gln382His | |
| XR_002956167.1:n.1337G>C | ||
| NM_004168.4:c.1290G>C MANE Select | NP_004159.2:p.Gln430His | |
| NM_001294332.2:c.1146G>C | NP_001281261.1:p.Gln382His | |
| NM_001330758.2:c.1290G>C | NP_001317687.1:p.Gln430His |