Linked Data
ClinVar Variation Id:
3003953
ClinVar RCV Id:
RCV003863528
dbSNP Id:
rs1821648152
gnomAD v3:
8-41933153-C-G
gnomAD v4:
8-41933153-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.41933153C>G , CM000670.2:g.41933153C>G | GRCh38 |
| NC_000008.10:g.41790671C>G , CM000670.1:g.41790671C>G | GRCh37 |
| NC_000008.9:g.41909828C>G | NCBI36 |
| NG_042093.1:g.123874G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265713.8:c.5067G>C MANE Select | ENSP00000265713.2:p.Gln1689His | |
| ENST00000396930.4:c.5067G>C | ENSP00000380136.3:p.Gln1689His | |
| ENST00000406337.6:c.5073G>C | ENSP00000385888.2:p.Gln1691His | |
| ENST00000649817.1:c.3748G>C | ||
| ENST00000265713.6:c.5067G>C | ENSP00000265713.2:p.Gln1689His | |
| ENST00000396930.3:c.5067G>C | ENSP00000380136.3:p.Gln1689His | |
| ENST00000406337.5:c.5067G>C | ENSP00000385888.1:p.Gln1689His | |
| NM_001099412.1:c.5067G>C | NP_001092882.1:p.Gln1689His | |
| NM_001099413.1:c.5067G>C | NP_001092883.1:p.Gln1689His | |
| NM_006766.3:c.5067G>C | NP_006757.2:p.Gln1689His | |
| NM_006766.4:c.5067G>C | NP_006757.2:p.Gln1689His | |
| XM_011544656.1:c.5199G>C | XP_011542958.1:p.Gln1733His | |
| XM_011544657.1:c.5199G>C | XP_011542959.1:p.Gln1733His | |
| XM_011544658.1:c.5199G>C | XP_011542960.1:p.Gln1733His | |
| XM_011544659.1:c.5178G>C | XP_011542961.1:p.Gln1726His | |
| XM_011544660.1:c.5085G>C | XP_011542962.1:p.Gln1695His | |
| XM_011544656.2:c.5199G>C | XP_011542958.1:p.Gln1733His | |
| XM_011544657.3:c.5199G>C | XP_011542959.1:p.Gln1733His | |
| XM_011544658.3:c.5199G>C | XP_011542960.1:p.Gln1733His | |
| XM_011544659.2:c.5178G>C | XP_011542961.1:p.Gln1726His | |
| XM_017013863.1:c.5067G>C | XP_016869352.1:p.Gln1689His | |
| XM_017013864.2:c.5067G>C | XP_016869353.1:p.Gln1689His | |
| XM_024447285.1:c.3639G>C | XP_024303053.1:p.Gln1213His | |
| NM_006766.5:c.5067G>C MANE Select | NP_006757.2:p.Gln1689His |