Linked Data
ClinVar Variation Id:
296901
dbSNP Id:
rs886046328
gnomAD v3:
1-243256068-G-T
gnomAD v4:
1-243256068-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.243256068G>T , CM000663.2:g.243256068G>T | GRCh38 |
| NC_000001.10:g.243419370G>T , CM000663.1:g.243419370G>T | GRCh37 |
| NC_000001.9:g.241485993G>T | NCBI36 |
| NG_027811.1:g.5064G>T | |
| NG_029663.1:g.4339C>A | |
| NG_029663.2:g.4339C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366541.8:c.-106G>T MANE Select | ENSP00000355499.3:n.-106G>T | |
| ENST00000366541.7:c.-106G>T | ENSP00000355499.3:n.-106G>T | |
| ENST00000490065.5:n.35G>T | ||
| NM_006642.3:c.-106G>T | NP_006633.1:n.-106G>T | |
| XM_005273013.3:c.-106G>T | XP_005273070.1:n.-106G>T | |
| XM_005273018.1:c.-413G>T | XP_005273075.1:n.-413G>T | |
| XM_005273022.2:c.-644G>T | XP_005273079.1:n.-644G>T | |
| XM_005273023.3:c.-106G>T | XP_005273080.1:n.-106G>T | |
| XM_006711727.2:c.84+542G>T | XP_006711790.1:n.84+542G>T | |
| XM_006711728.2:c.84+542G>T | XP_006711791.1:n.84+542G>T | |
| XM_006711729.2:c.84+542G>T | XP_006711792.1:n.84+542G>T | |
| XM_011544021.1:c.84+542G>T | XP_011542323.1:n.84+542G>T | |
| XM_011544022.1:c.-106G>T | XP_011542324.1:n.-106G>T | |
| XM_011544023.1:c.84+542G>T | XP_011542325.1:n.84+542G>T | |
| XM_011544024.1:c.84+542G>T | XP_011542326.1:n.84+542G>T | |
| XM_011544025.1:c.84+542G>T | XP_011542327.1:n.84+542G>T | |
| XM_011544026.1:c.84+542G>T | XP_011542328.1:n.84+542G>T | |
| XM_011544027.1:c.84+542G>T | XP_011542329.1:n.84+542G>T | |
| XM_011544028.1:c.84+542G>T | XP_011542330.1:n.84+542G>T | |
| XM_011544029.1:c.84+542G>T | XP_011542331.1:n.84+542G>T | |
| XR_949128.1:n.108+542G>T | ||
| NM_001350246.1:c.-1218G>T | NP_001337175.1:n.-1218G>T | |
| NM_001350247.1:c.-1106G>T | NP_001337176.1:n.-1106G>T | |
| NM_001350248.1:c.-106G>T | NP_001337177.1:n.-106G>T | |
| NM_001350249.1:c.-413G>T | NP_001337178.1:n.-413G>T | |
| NM_001350251.1:c.-1479G>T | NP_001337180.1:n.-1479G>T | |
| NM_006642.4:c.-106G>T | NP_006633.1:n.-106G>T | |
| XM_005273013.5:c.-106G>T | XP_005273070.1:n.-106G>T | |
| XM_005273018.2:c.-413G>T | XP_005273075.1:n.-413G>T | |
| XM_005273022.4:c.-644G>T | XP_005273079.1:n.-644G>T | |
| XM_005273023.5:c.-106G>T | XP_005273080.1:n.-106G>T | |
| XM_011544026.3:c.84+542G>T | XP_011542328.1:n.84+542G>T | |
| XM_011544028.3:c.84+542G>T | XP_011542330.1:n.84+542G>T | |
| XM_017000104.2:c.-106G>T | XP_016855593.1:n.-106G>T | |
| XM_017000105.2:c.-106G>T | XP_016855594.1:n.-106G>T | |
| XM_024452540.1:c.-413G>T | XP_024308308.1:n.-413G>T | |
| XM_024452547.1:c.-413G>T | XP_024308315.1:n.-413G>T | |
| XM_024452548.1:c.-228+542G>T | XP_024308316.1:n.-228+542G>T | |
| NM_006642.5:c.-106G>T MANE Select | NP_006633.1:n.-106G>T | |
| NM_001350246.2:c.-1218G>T | NP_001337175.1:n.-1218G>T | |
| NM_001350247.2:c.-1106G>T | NP_001337176.1:n.-1106G>T | |
| NM_001350248.2:c.-106G>T | NP_001337177.1:n.-106G>T | |
| NM_001350249.2:c.-413G>T | NP_001337178.1:n.-413G>T | |
| NM_001350251.2:c.-1479G>T | NP_001337180.1:n.-1479G>T |