Linked Data
ClinVar Variation Id:
489261
dbSNP Id:
rs1286714661
gnomAD v3:
1-243415802-C-T
gnomAD v4:
1-243415802-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.243415802C>T , CM000663.2:g.243415802C>T | GRCh38 |
| NC_000001.10:g.243579104C>T , CM000663.1:g.243579104C>T | GRCh37 |
| NC_000001.9:g.241645727C>T | NCBI36 |
| NG_027811.1:g.164798C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366541.8:c.1717C>T MANE Select | ENSP00000355499.3:p.Gln573Ter | |
| ENST00000366541.7:c.1717C>T | ENSP00000355499.3:p.Gln573Ter | |
| ENST00000435549.1:c.957-10625C>T | ENSP00000410200.1:n.957-10625C>T | |
| ENST00000493334.1:n.684C>T | ||
| NM_006642.3:c.1717C>T | NP_006633.1:p.Gln573Ter | |
| XM_005273013.3:c.1588C>T | XP_005273070.1:p.Gln530Ter | |
| XM_005273018.1:c.1294C>T | XP_005273075.1:p.Gln432Ter | |
| XM_005273021.3:c.814C>T | XP_005273078.1:p.Gln272Ter | |
| XM_005273022.2:c.796C>T | XP_005273079.1:p.Gln266Ter | |
| XM_006711727.2:c.1747C>T | XP_006711790.1:p.Gln583Ter | |
| XM_006711728.2:c.1618C>T | XP_006711791.1:p.Gln540Ter | |
| XM_006711729.2:c.1558C>T | XP_006711792.1:p.Gln520Ter | |
| XM_011544021.1:c.1843C>T | XP_011542323.1:p.Gln615Ter | |
| XM_011544022.1:c.1813C>T | XP_011542324.1:p.Gln605Ter | |
| XM_011544023.1:c.1843C>T | XP_011542325.1:p.Gln615Ter | |
| XM_011544024.1:c.1843C>T | XP_011542326.1:p.Gln615Ter | |
| XM_011544025.1:c.1654C>T | XP_011542327.1:p.Gln552Ter | |
| XM_011544026.1:c.1743-10625C>T | XP_011542328.1:n.1743-10625C>T | |
| XM_011544027.1:c.1429C>T | XP_011542329.1:p.Gln477Ter | |
| XM_011544028.1:c.1518-10625C>T | XP_011542330.1:n.1518-10625C>T | |
| XM_011544030.1:c.772C>T | XP_011542332.1:p.Gln258Ter | |
| XR_949128.1:n.1867C>T | ||
| NM_001350246.1:c.814C>T | NP_001337175.1:p.Gln272Ter | |
| NM_001350247.1:c.814C>T | NP_001337176.1:p.Gln272Ter | |
| NM_001350248.1:c.1813C>T | NP_001337177.1:p.Gln605Ter | |
| NM_001350249.1:c.1423C>T | NP_001337178.1:p.Gln475Ter | |
| NM_001350251.1:c.814C>T | NP_001337180.1:p.Gln272Ter | |
| NM_006642.4:c.1717C>T | NP_006633.1:p.Gln573Ter | |
| XM_005273013.5:c.1588C>T | XP_005273070.1:p.Gln530Ter | |
| XM_005273018.2:c.1294C>T | XP_005273075.1:p.Gln432Ter | |
| XM_005273022.4:c.796C>T | XP_005273079.1:p.Gln266Ter | |
| XM_011544026.3:c.1743-10625C>T | XP_011542328.1:n.1743-10625C>T | |
| XM_011544028.3:c.1518-10625C>T | XP_011542330.1:n.1518-10625C>T | |
| XM_011544030.3:c.772C>T | XP_011542332.1:p.Gln258Ter | |
| XM_017000104.2:c.1588C>T | XP_016855593.1:p.Gln530Ter | |
| XM_017000105.2:c.1617-10625C>T | XP_016855594.1:n.1617-10625C>T | |
| XM_024452537.1:c.1519C>T | XP_024308305.1:p.Gln507Ter | |
| XM_024452539.1:c.1519C>T | XP_024308307.1:p.Gln507Ter | |
| XM_024452540.1:c.1519C>T | XP_024308308.1:p.Gln507Ter | |
| XM_024452547.1:c.1423C>T | XP_024308315.1:p.Gln475Ter | |
| XM_024452548.1:c.1519C>T | XP_024308316.1:p.Gln507Ter | |
| XM_024452549.1:c.1323-10625C>T | XP_024308317.1:n.1323-10625C>T | |
| XR_002958955.1:n.1759C>T | ||
| XR_002958956.1:n.1759C>T | ||
| XR_002958965.1:n.1759C>T | ||
| NM_006642.5:c.1717C>T MANE Select | NP_006633.1:p.Gln573Ter | |
| NM_001350246.2:c.814C>T | NP_001337175.1:p.Gln272Ter | |
| NM_001350247.2:c.814C>T | NP_001337176.1:p.Gln272Ter | |
| NM_001350248.2:c.1813C>T | NP_001337177.1:p.Gln605Ter | |
| NM_001350249.2:c.1423C>T | NP_001337178.1:p.Gln475Ter | |
| NM_001350251.2:c.814C>T | NP_001337180.1:p.Gln272Ter |