Linked Data
ClinVar Variation Id:
354162
dbSNP Id:
rs79008179
ExAC:
5:76704713 G / A
gnomAD v2:
5-76704713-G-A
gnomAD v3:
5-77408888-G-A
gnomAD v4:
5-77408888-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.77408888G>A , CM000667.2:g.77408888G>A | GRCh38 |
| NC_000005.9:g.76704713G>A , CM000667.1:g.76704713G>A | GRCh37 |
| NC_000005.8:g.76740469G>A | NCBI36 |
| NG_023364.1:g.203008G>A | |
| NG_023364.2:g.233637G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264917.10:c.1366-5G>A MANE Select | ENSP00000264917.6:n.1366-5G>A | |
| ENST00000646262.1:c.994-5G>A | ENSP00000493971.1:n.994-5G>A | |
| ENST00000264917.9:c.1366-5G>A | ENSP00000264917.5:n.1366-5G>A | |
| ENST00000333194.8:c.1365+1431G>A | ENSP00000331336.4:n.1365+1431G>A | |
| ENST00000340978.7:c.1225-5G>A | ENSP00000345446.3:n.1225-5G>A | |
| ENST00000342343.8:c.1306-5G>A | ENSP00000345646.4:n.1306-5G>A | |
| ENST00000346042.7:c.1075-5G>A | ENSP00000330428.3:n.1075-5G>A | |
| NM_001029851.2:c.1075-5G>A | NP_001025022.1:n.1075-5G>A | |
| NM_001029852.2:c.1365+1431G>A | NP_001025023.1:n.1365+1431G>A | |
| NM_001029853.2:c.1306-5G>A | NP_001025024.1:n.1306-5G>A | |
| NM_001029854.2:c.1225-5G>A | NP_001025025.1:n.1225-5G>A | |
| NM_003719.3:c.1366-5G>A | NP_003710.1:n.1366-5G>A | |
| XM_005248621.3:c.1363-5G>A | XP_005248678.1:n.1363-5G>A | |
| XM_005248623.3:c.1063-5G>A | XP_005248680.1:n.1063-5G>A | |
| XM_005248624.3:c.1060-5G>A | XP_005248681.1:n.1060-5G>A | |
| XM_006714725.2:c.1429-5G>A | XP_006714788.1:n.1429-5G>A | |
| XM_006714726.2:c.1426-5G>A | XP_006714789.1:n.1426-5G>A | |
| XM_011543699.1:c.1429-5G>A | XP_011542001.1:n.1429-5G>A | |
| XM_011543700.1:c.1138-5G>A | XP_011542002.1:n.1138-5G>A | |
| XM_011543701.1:c.1126-5G>A | XP_011542003.1:n.1126-5G>A | |
| XM_011543702.1:c.1033-5G>A | XP_011542004.1:n.1033-5G>A | |
| XM_011543703.1:c.1051-5G>A | XP_011542005.1:n.1051-5G>A | |
| XM_011543704.1:c.652-5G>A | XP_011542006.1:n.652-5G>A | |
| NM_001349748.1:c.1363-5G>A | NP_001336677.1:n.1363-5G>A | |
| NM_001349749.1:c.1429-5G>A | NP_001336678.1:n.1429-5G>A | |
| NM_001349750.1:c.1126-5G>A | NP_001336679.1:n.1126-5G>A | |
| NM_001349751.1:c.1363-5G>A | NP_001336680.1:n.1363-5G>A | |
| NM_001349752.1:c.1060-5G>A | NP_001336681.1:n.1060-5G>A | |
| NM_001349753.1:c.994-5G>A | NP_001336682.1:n.994-5G>A | |
| XM_005248623.4:c.1063-5G>A | XP_005248680.1:n.1063-5G>A | |
| XM_006714726.3:c.1426-5G>A | XP_006714789.1:n.1426-5G>A | |
| XM_011543699.3:c.1429-5G>A | XP_011542001.1:n.1429-5G>A | |
| XM_011543700.3:c.1138-5G>A | XP_011542002.1:n.1138-5G>A | |
| XM_011543704.2:c.652-5G>A | XP_011542006.1:n.652-5G>A | |
| XM_017010005.2:c.1072-5G>A | XP_016865494.1:n.1072-5G>A | |
| XM_017010007.2:c.1063-5G>A | XP_016865496.1:n.1063-5G>A | |
| XM_017010008.2:c.772-5G>A | XP_016865497.1:n.772-5G>A | |
| XM_024446253.1:c.994-5G>A | XP_024302021.1:n.994-5G>A | |
| XM_024446254.1:c.703-5G>A | XP_024302022.1:n.703-5G>A | |
| NM_001029851.4:c.1075-5G>A | NP_001025022.1:n.1075-5G>A | |
| NM_001029852.4:c.1365+1431G>A | NP_001025023.1:n.1365+1431G>A | |
| NM_001029853.4:c.1306-5G>A | NP_001025024.1:n.1306-5G>A | |
| NM_001029854.4:c.1225-5G>A | NP_001025025.1:n.1225-5G>A | |
| NM_001349748.3:c.1363-5G>A | NP_001336677.1:n.1363-5G>A | |
| NM_001349749.3:c.1429-5G>A | NP_001336678.1:n.1429-5G>A | |
| NM_001349750.3:c.1126-5G>A | NP_001336679.1:n.1126-5G>A | |
| NM_001349751.3:c.1363-5G>A | NP_001336680.1:n.1363-5G>A | |
| NM_001349752.3:c.1060-5G>A | NP_001336681.1:n.1060-5G>A | |
| NM_001349753.2:c.994-5G>A | NP_001336682.1:n.994-5G>A | |
| NM_001376062.1:c.1063-5G>A | NP_001362991.1:n.1063-5G>A | |
| NM_001376063.1:c.1357-5G>A | NP_001362992.1:n.1357-5G>A | |
| NM_001376064.1:c.1216-5G>A | NP_001362993.1:n.1216-5G>A | |
| NM_001376065.1:c.1072-5G>A | NP_001362994.1:n.1072-5G>A | |
| NM_001376066.1:c.1003-5G>A | NP_001362995.1:n.1003-5G>A | |
| NM_001376067.1:c.994-5G>A | NP_001362996.1:n.994-5G>A | |
| NM_001376068.1:c.994-5G>A | NP_001362997.1:n.994-5G>A | |
| NM_001376069.1:c.982-5G>A | NP_001362998.1:n.982-5G>A | |
| NM_001376070.1:c.922-5G>A | NP_001362999.1:n.922-5G>A | |
| NM_001376071.1:c.919-5G>A | NP_001363000.1:n.919-5G>A | |
| NM_001376072.1:c.1063-5G>A | NP_001363001.1:n.1063-5G>A | |
| NM_001376073.1:c.772-5G>A | NP_001363002.1:n.772-5G>A | |
| NM_001376074.1:c.712-5G>A | NP_001363003.1:n.712-5G>A | |
| NM_001376075.1:c.703-5G>A | NP_001363004.1:n.703-5G>A | |
| NM_003719.5:c.1366-5G>A MANE Select | NP_003710.1:n.1366-5G>A |