Linked Data
ClinVar Variation Id:
194077
dbSNP Id:
rs79762798
ExAC:
1:243507540 G / C
gnomAD v2:
1-243507540-G-C
gnomAD v3:
1-243344238-G-C
gnomAD v4:
1-243344238-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.243344238G>C , CM000663.2:g.243344238G>C | GRCh38 |
| NC_000001.10:g.243507540G>C , CM000663.1:g.243507540G>C | GRCh37 |
| NC_000001.9:g.241574163G>C | NCBI36 |
| NG_027811.1:g.93234G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366541.8:c.1380G>C MANE Select | ENSP00000355499.3:p.Gln460His | |
| ENST00000366541.7:c.1380G>C | ENSP00000355499.3:p.Gln460His | |
| ENST00000435549.1:c.720G>C | ENSP00000410200.1:p.Gln240His | |
| ENST00000493334.1:n.347G>C | ||
| NM_006642.3:c.1380G>C | NP_006633.1:p.Gln460His | |
| XM_005273013.3:c.1251G>C | XP_005273070.1:p.Gln417His | |
| XM_005273018.1:c.957G>C | XP_005273075.1:p.Gln319His | |
| XM_005273021.3:c.477G>C | XP_005273078.1:p.Gln159His | |
| XM_005273022.2:c.459G>C | XP_005273079.1:p.Gln153His | |
| XM_006711727.2:c.1410G>C | XP_006711790.1:p.Gln470His | |
| XM_006711728.2:c.1281G>C | XP_006711791.1:p.Gln427His | |
| XM_006711729.2:c.1221G>C | XP_006711792.1:p.Gln407His | |
| XM_011544021.1:c.1506G>C | XP_011542323.1:p.Gln502His | |
| XM_011544022.1:c.1476G>C | XP_011542324.1:p.Gln492His | |
| XM_011544023.1:c.1506G>C | XP_011542325.1:p.Gln502His | |
| XM_011544024.1:c.1506G>C | XP_011542326.1:p.Gln502His | |
| XM_011544025.1:c.1317G>C | XP_011542327.1:p.Gln439His | |
| XM_011544026.1:c.1506G>C | XP_011542328.1:p.Gln502His | |
| XM_011544027.1:c.1092G>C | XP_011542329.1:p.Gln364His | |
| XM_011544028.1:c.1281G>C | XP_011542330.1:p.Gln427His | |
| XM_011544030.1:c.435G>C | XP_011542332.1:p.Gln145His | |
| XR_949128.1:n.1530G>C | ||
| NM_001350246.1:c.477G>C | NP_001337175.1:p.Gln159His | |
| NM_001350247.1:c.477G>C | NP_001337176.1:p.Gln159His | |
| NM_001350248.1:c.1476G>C | NP_001337177.1:p.Gln492His | |
| NM_001350249.1:c.1086G>C | NP_001337178.1:p.Gln362His | |
| NM_001350251.1:c.477G>C | NP_001337180.1:p.Gln159His | |
| NM_006642.4:c.1380G>C | NP_006633.1:p.Gln460His | |
| XM_005273013.5:c.1251G>C | XP_005273070.1:p.Gln417His | |
| XM_005273018.2:c.957G>C | XP_005273075.1:p.Gln319His | |
| XM_005273022.4:c.459G>C | XP_005273079.1:p.Gln153His | |
| XM_011544026.3:c.1506G>C | XP_011542328.1:p.Gln502His | |
| XM_011544028.3:c.1281G>C | XP_011542330.1:p.Gln427His | |
| XM_011544030.3:c.435G>C | XP_011542332.1:p.Gln145His | |
| XM_017000104.2:c.1251G>C | XP_016855593.1:p.Gln417His | |
| XM_017000105.2:c.1380G>C | XP_016855594.1:p.Gln460His | |
| XM_024452537.1:c.1182G>C | XP_024308305.1:p.Gln394His | |
| XM_024452539.1:c.1182G>C | XP_024308307.1:p.Gln394His | |
| XM_024452540.1:c.1182G>C | XP_024308308.1:p.Gln394His | |
| XM_024452547.1:c.1086G>C | XP_024308315.1:p.Gln362His | |
| XM_024452548.1:c.1182G>C | XP_024308316.1:p.Gln394His | |
| XM_024452549.1:c.1086G>C | XP_024308317.1:p.Gln362His | |
| XR_002958955.1:n.1422G>C | ||
| XR_002958956.1:n.1422G>C | ||
| XR_002958965.1:n.1422G>C | ||
| NM_006642.5:c.1380G>C MANE Select | NP_006633.1:p.Gln460His | |
| NM_001350246.2:c.477G>C | NP_001337175.1:p.Gln159His | |
| NM_001350247.2:c.477G>C | NP_001337176.1:p.Gln159His | |
| NM_001350248.2:c.1476G>C | NP_001337177.1:p.Gln492His | |
| NM_001350249.2:c.1086G>C | NP_001337178.1:p.Gln362His | |
| NM_001350251.2:c.477G>C | NP_001337180.1:p.Gln159His |