Linked Data
ClinVar Variation Id:
260012
dbSNP Id:
rs12080579
ExAC:
1:243456389 T / G
gnomAD v2:
1-243456389-T-G
gnomAD v3:
1-243293087-T-G
gnomAD v4:
1-243293087-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.243293087T>G , CM000663.2:g.243293087T>G | GRCh38 |
| NC_000001.10:g.243456389T>G , CM000663.1:g.243456389T>G | GRCh37 |
| NC_000001.9:g.241523012T>G | NCBI36 |
| NG_027811.1:g.42083T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366541.8:c.547-4T>G MANE Select | ENSP00000355499.3:n.547-4T>G | |
| ENST00000366541.7:c.547-4T>G | ENSP00000355499.3:n.547-4T>G | |
| ENST00000435549.1:c.15+6690T>G | ENSP00000410200.1:n.15+6690T>G | |
| ENST00000476722.6:c.45-4T>G | ||
| ENST00000482234.1:n.280-4T>G | ||
| NM_006642.3:c.547-4T>G | NP_006633.1:n.547-4T>G | |
| XM_005273013.3:c.546+6690T>G | XP_005273070.1:n.546+6690T>G | |
| XM_005273018.1:c.252+6690T>G | XP_005273075.1:n.252+6690T>G | |
| XM_005273022.2:c.8+6690T>G | XP_005273079.1:n.8+6690T>G | |
| XM_005273023.3:c.547-4T>G | XP_005273080.1:n.547-4T>G | |
| XM_006711727.2:c.577-4T>G | XP_006711790.1:n.577-4T>G | |
| XM_006711728.2:c.576+6690T>G | XP_006711791.1:n.576+6690T>G | |
| XM_006711729.2:c.577-4T>G | XP_006711792.1:n.577-4T>G | |
| XM_011544021.1:c.577-4T>G | XP_011542323.1:n.577-4T>G | |
| XM_011544022.1:c.547-4T>G | XP_011542324.1:n.547-4T>G | |
| XM_011544023.1:c.577-4T>G | XP_011542325.1:n.577-4T>G | |
| XM_011544024.1:c.577-4T>G | XP_011542326.1:n.577-4T>G | |
| XM_011544025.1:c.577-4T>G | XP_011542327.1:n.577-4T>G | |
| XM_011544026.1:c.577-4T>G | XP_011542328.1:n.577-4T>G | |
| XM_011544027.1:c.576+6690T>G | XP_011542329.1:n.576+6690T>G | |
| XM_011544028.1:c.576+6690T>G | XP_011542330.1:n.576+6690T>G | |
| XM_011544029.1:c.577-4T>G | XP_011542331.1:n.577-4T>G | |
| XR_949128.1:n.601-4T>G | ||
| NM_001350246.1:c.-566-4T>G | NP_001337175.1:n.-566-4T>G | |
| NM_001350247.1:c.-454-4T>G | NP_001337176.1:n.-454-4T>G | |
| NM_001350248.1:c.547-4T>G | NP_001337177.1:n.547-4T>G | |
| NM_001350249.1:c.253-4T>G | NP_001337178.1:n.253-4T>G | |
| NM_001350251.1:c.-827-4T>G | NP_001337180.1:n.-827-4T>G | |
| NM_006642.4:c.547-4T>G | NP_006633.1:n.547-4T>G | |
| XM_005273013.5:c.546+6690T>G | XP_005273070.1:n.546+6690T>G | |
| XM_005273018.2:c.252+6690T>G | XP_005273075.1:n.252+6690T>G | |
| XM_005273022.4:c.8+6690T>G | XP_005273079.1:n.8+6690T>G | |
| XM_005273023.5:c.547-4T>G | XP_005273080.1:n.547-4T>G | |
| XM_011544026.3:c.577-4T>G | XP_011542328.1:n.577-4T>G | |
| XM_011544028.3:c.576+6690T>G | XP_011542330.1:n.576+6690T>G | |
| XM_017000104.2:c.546+6690T>G | XP_016855593.1:n.546+6690T>G | |
| XM_017000105.2:c.547-4T>G | XP_016855594.1:n.547-4T>G | |
| XM_024452537.1:c.253-4T>G | XP_024308305.1:n.253-4T>G | |
| XM_024452539.1:c.253-4T>G | XP_024308307.1:n.253-4T>G | |
| XM_024452540.1:c.253-4T>G | XP_024308308.1:n.253-4T>G | |
| XM_024452547.1:c.253-4T>G | XP_024308315.1:n.253-4T>G | |
| XM_024452548.1:c.253-4T>G | XP_024308316.1:n.253-4T>G | |
| XM_024452549.1:c.253-4T>G | XP_024308317.1:n.253-4T>G | |
| XR_002958955.1:n.493-4T>G | ||
| XR_002958956.1:n.493-4T>G | ||
| XR_002958965.1:n.493-4T>G | ||
| NM_006642.5:c.547-4T>G MANE Select | NP_006633.1:n.547-4T>G | |
| NM_001350246.2:c.-566-4T>G | NP_001337175.1:n.-566-4T>G | |
| NM_001350247.2:c.-454-4T>G | NP_001337176.1:n.-454-4T>G | |
| NM_001350248.2:c.547-4T>G | NP_001337177.1:n.547-4T>G | |
| NM_001350249.2:c.253-4T>G | NP_001337178.1:n.253-4T>G | |
| NM_001350251.2:c.-827-4T>G | NP_001337180.1:n.-827-4T>G |