Linked Data
ClinVar Variation Id:
1658981
ClinVar RCV Id:
RCV002176074
dbSNP Id:
rs951967006
gnomAD v2:
1-243589723-C-T
gnomAD v4:
1-243426421-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.243426421C>T , CM000663.2:g.243426421C>T | GRCh38 |
| NC_000001.10:g.243589723C>T , CM000663.1:g.243589723C>T | GRCh37 |
| NC_000001.9:g.241656346C>T | NCBI36 |
| NG_027811.1:g.175417C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366541.8:c.1854-6C>T MANE Select | ENSP00000355499.3:n.1854-6C>T | |
| ENST00000366541.7:c.1854-6C>T | ENSP00000355499.3:n.1854-6C>T | |
| ENST00000435549.1:c.957-6C>T | ENSP00000410200.1:n.957-6C>T | |
| ENST00000463042.1:n.61-6C>T | ||
| NM_006642.3:c.1854-6C>T | NP_006633.1:n.1854-6C>T | |
| XM_005273013.3:c.1725-6C>T | XP_005273070.1:n.1725-6C>T | |
| XM_005273018.1:c.1431-6C>T | XP_005273075.1:n.1431-6C>T | |
| XM_005273021.3:c.951-6C>T | XP_005273078.1:n.951-6C>T | |
| XM_005273022.2:c.933-6C>T | XP_005273079.1:n.933-6C>T | |
| XM_006711727.2:c.1884-6C>T | XP_006711790.1:n.1884-6C>T | |
| XM_006711728.2:c.1755-6C>T | XP_006711791.1:n.1755-6C>T | |
| XM_006711729.2:c.1695-6C>T | XP_006711792.1:n.1695-6C>T | |
| XM_011544021.1:c.1980-6C>T | XP_011542323.1:n.1980-6C>T | |
| XM_011544022.1:c.1950-6C>T | XP_011542324.1:n.1950-6C>T | |
| XM_011544023.1:c.1980-6C>T | XP_011542325.1:n.1980-6C>T | |
| XM_011544024.1:c.1980-6C>T | XP_011542326.1:n.1980-6C>T | |
| XM_011544025.1:c.1791-6C>T | XP_011542327.1:n.1791-6C>T | |
| XM_011544026.1:c.1743-6C>T | XP_011542328.1:n.1743-6C>T | |
| XM_011544027.1:c.1566-6C>T | XP_011542329.1:n.1566-6C>T | |
| XM_011544028.1:c.1518-6C>T | XP_011542330.1:n.1518-6C>T | |
| XM_011544030.1:c.909-6C>T | XP_011542332.1:n.909-6C>T | |
| XR_949128.1:n.2004-6C>T | ||
| NM_001350246.1:c.951-6C>T | NP_001337175.1:n.951-6C>T | |
| NM_001350247.1:c.951-6C>T | NP_001337176.1:n.951-6C>T | |
| NM_001350248.1:c.1950-6C>T | NP_001337177.1:n.1950-6C>T | |
| NM_001350249.1:c.1560-6C>T | NP_001337178.1:n.1560-6C>T | |
| NM_001350251.1:c.951-6C>T | NP_001337180.1:n.951-6C>T | |
| NM_006642.4:c.1854-6C>T | NP_006633.1:n.1854-6C>T | |
| XM_005273013.5:c.1725-6C>T | XP_005273070.1:n.1725-6C>T | |
| XM_005273018.2:c.1431-6C>T | XP_005273075.1:n.1431-6C>T | |
| XM_005273022.4:c.933-6C>T | XP_005273079.1:n.933-6C>T | |
| XM_011544026.3:c.1743-6C>T | XP_011542328.1:n.1743-6C>T | |
| XM_011544028.3:c.1518-6C>T | XP_011542330.1:n.1518-6C>T | |
| XM_011544030.3:c.909-6C>T | XP_011542332.1:n.909-6C>T | |
| XM_017000104.2:c.1725-6C>T | XP_016855593.1:n.1725-6C>T | |
| XM_017000105.2:c.1617-6C>T | XP_016855594.1:n.1617-6C>T | |
| XM_024452537.1:c.1656-6C>T | XP_024308305.1:n.1656-6C>T | |
| XM_024452539.1:c.1656-6C>T | XP_024308307.1:n.1656-6C>T | |
| XM_024452540.1:c.1656-6C>T | XP_024308308.1:n.1656-6C>T | |
| XM_024452547.1:c.1560-6C>T | XP_024308315.1:n.1560-6C>T | |
| XM_024452548.1:c.1656-6C>T | XP_024308316.1:n.1656-6C>T | |
| XM_024452549.1:c.1323-6C>T | XP_024308317.1:n.1323-6C>T | |
| XR_002958955.1:n.1896-6C>T | ||
| XR_002958956.1:n.1896-6C>T | ||
| XR_002958965.1:n.1787-6C>T | ||
| NM_006642.5:c.1854-6C>T MANE Select | NP_006633.1:n.1854-6C>T | |
| NM_001350246.2:c.951-6C>T | NP_001337175.1:n.951-6C>T | |
| NM_001350247.2:c.951-6C>T | NP_001337176.1:n.951-6C>T | |
| NM_001350248.2:c.1950-6C>T | NP_001337177.1:n.1950-6C>T | |
| NM_001350249.2:c.1560-6C>T | NP_001337178.1:n.1560-6C>T | |
| NM_001350251.2:c.951-6C>T | NP_001337180.1:n.951-6C>T |