Linked Data
ClinVar Variation Id:
61
ClinVar RCV Id:
RCV000000078
dbSNP Id:
rs267607031
ExAC:
1:243468018 A / T
gnomAD v2:
1-243468018-A-T
gnomAD v3:
1-243304716-A-T
gnomAD v4:
1-243304716-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.243304716A>T , CM000663.2:g.243304716A>T | GRCh38 |
| NC_000001.10:g.243468018A>T , CM000663.1:g.243468018A>T | GRCh37 |
| NC_000001.9:g.241534641A>T | NCBI36 |
| NG_027811.1:g.53712A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366541.8:c.679A>T MANE Select | ENSP00000355499.3:p.Lys227Ter | |
| ENST00000366541.7:c.679A>T | ENSP00000355499.3:p.Lys227Ter | |
| ENST00000435549.1:c.19A>T | ENSP00000410200.1:p.Lys7Ter | |
| ENST00000476722.6:c.273A>T | ||
| ENST00000482234.1:n.412A>T | ||
| ENST00000496361.1:n.106A>T | ||
| NM_006642.3:c.679A>T | NP_006633.1:p.Lys227Ter | |
| XM_005273013.3:c.550A>T | XP_005273070.1:p.Lys184Ter | |
| XM_005273018.1:c.256A>T | XP_005273075.1:p.Lys86Ter | |
| XM_005273022.2:c.9-12039A>T | XP_005273079.1:n.9-12039A>T | |
| XM_005273023.3:c.679A>T | XP_005273080.1:p.Lys227Ter | |
| XM_006711727.2:c.709A>T | XP_006711790.1:p.Lys237Ter | |
| XM_006711728.2:c.580A>T | XP_006711791.1:p.Lys194Ter | |
| XM_006711729.2:c.709A>T | XP_006711792.1:p.Lys237Ter | |
| XM_011544021.1:c.805A>T | XP_011542323.1:p.Lys269Ter | |
| XM_011544022.1:c.775A>T | XP_011542324.1:p.Lys259Ter | |
| XM_011544023.1:c.805A>T | XP_011542325.1:p.Lys269Ter | |
| XM_011544024.1:c.805A>T | XP_011542326.1:p.Lys269Ter | |
| XM_011544025.1:c.805A>T | XP_011542327.1:p.Lys269Ter | |
| XM_011544026.1:c.805A>T | XP_011542328.1:p.Lys269Ter | |
| XM_011544027.1:c.580A>T | XP_011542329.1:p.Lys194Ter | |
| XM_011544028.1:c.580A>T | XP_011542330.1:p.Lys194Ter | |
| XM_011544029.1:c.805A>T | XP_011542331.1:p.Lys269Ter | |
| XR_949128.1:n.829A>T | ||
| NM_001350246.1:c.-434A>T | NP_001337175.1:n.-434A>T | |
| NM_001350247.1:c.-322A>T | NP_001337176.1:n.-322A>T | |
| NM_001350248.1:c.775A>T | NP_001337177.1:p.Lys259Ter | |
| NM_001350249.1:c.385A>T | NP_001337178.1:p.Lys129Ter | |
| NM_001350251.1:c.-599A>T | NP_001337180.1:n.-599A>T | |
| NM_006642.4:c.679A>T | NP_006633.1:p.Lys227Ter | |
| XM_005273013.5:c.550A>T | XP_005273070.1:p.Lys184Ter | |
| XM_005273018.2:c.256A>T | XP_005273075.1:p.Lys86Ter | |
| XM_005273022.4:c.9-12039A>T | XP_005273079.1:n.9-12039A>T | |
| XM_005273023.5:c.679A>T | XP_005273080.1:p.Lys227Ter | |
| XM_011544026.3:c.805A>T | XP_011542328.1:p.Lys269Ter | |
| XM_011544028.3:c.580A>T | XP_011542330.1:p.Lys194Ter | |
| XM_017000104.2:c.550A>T | XP_016855593.1:p.Lys184Ter | |
| XM_017000105.2:c.679A>T | XP_016855594.1:p.Lys227Ter | |
| XM_024452537.1:c.481A>T | XP_024308305.1:p.Lys161Ter | |
| XM_024452539.1:c.481A>T | XP_024308307.1:p.Lys161Ter | |
| XM_024452540.1:c.481A>T | XP_024308308.1:p.Lys161Ter | |
| XM_024452547.1:c.385A>T | XP_024308315.1:p.Lys129Ter | |
| XM_024452548.1:c.481A>T | XP_024308316.1:p.Lys161Ter | |
| XM_024452549.1:c.385A>T | XP_024308317.1:p.Lys129Ter | |
| XR_002958955.1:n.721A>T | ||
| XR_002958956.1:n.721A>T | ||
| XR_002958965.1:n.721A>T | ||
| NM_006642.5:c.679A>T MANE Select | NP_006633.1:p.Lys227Ter | |
| NM_001350246.2:c.-434A>T | NP_001337175.1:n.-434A>T | |
| NM_001350247.2:c.-322A>T | NP_001337176.1:n.-322A>T | |
| NM_001350248.2:c.775A>T | NP_001337177.1:p.Lys259Ter | |
| NM_001350249.2:c.385A>T | NP_001337178.1:p.Lys129Ter | |
| NM_001350251.2:c.-599A>T | NP_001337180.1:n.-599A>T |