Linked Data
dbSNP Id:
rs1020645766
gnomAD v2:
2-44126241-C-A
gnomAD v3:
2-43899102-C-A
gnomAD v4:
2-43899102-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43899102C>A , CM000664.2:g.43899102C>A | GRCh38 |
| NC_000002.11:g.44126241C>A , CM000664.1:g.44126241C>A | GRCh37 |
| NC_000002.10:g.43979745C>A | NCBI36 |
| NG_008247.1:g.101904G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000419884.6:c.256+117G>T | ||
| ENST00000472420.6:n.904+117G>T | ||
| ENST00000483489.2:n.256+117G>T | ||
| ENST00000681993.1:n.1377+117G>T | ||
| ENST00000682303.1:c.*3611+117G>T | ENSP00000508325.1:n.*3611+117G>T | |
| ENST00000682308.1:c.3825+117G>T | ENSP00000507056.1:n.3825+117G>T | |
| ENST00000682434.1:n.1376+117G>T | ||
| ENST00000682480.1:c.3843+117G>T | ENSP00000508344.1:n.3843+117G>T | |
| ENST00000682546.1:c.3822+117G>T | ENSP00000508188.1:n.3822+117G>T | |
| ENST00000682585.1:c.3825+117G>T | ENSP00000506885.1:n.3825+117G>T | |
| ENST00000682595.1:n.4409+117G>T | ||
| ENST00000682607.1:c.2243+117G>T | ||
| ENST00000682612.1:c.677+117G>T | ||
| ENST00000682779.1:c.3816+117G>T | ENSP00000507947.1:n.3816+117G>T | |
| ENST00000682885.1:c.3780+117G>T | ENSP00000508036.1:n.3780+117G>T | |
| ENST00000682933.1:n.3899+117G>T | ||
| ENST00000683002.1:c.677+117G>T | ||
| ENST00000683072.1:n.4409+117G>T | ||
| ENST00000683080.1:n.1444+117G>T | ||
| ENST00000683125.1:c.3933+117G>T | ENSP00000507939.1:n.3933+117G>T | |
| ENST00000683213.1:c.3828+117G>T | ENSP00000507751.1:n.3828+117G>T | |
| ENST00000683220.1:c.3855+117G>T | ENSP00000507151.1:n.3855+117G>T | |
| ENST00000683329.1:n.4628+117G>T | ||
| ENST00000683346.1:c.*3700+117G>T | ENSP00000507458.1:n.*3700+117G>T | |
| ENST00000683409.1:n.2432+117G>T | ||
| ENST00000683459.1:n.4412+117G>T | ||
| ENST00000683590.1:c.3573+117G>T | ENSP00000506820.1:n.3573+117G>T | |
| ENST00000683623.1:c.3732+117G>T | ENSP00000507702.1:n.3732+117G>T | |
| ENST00000683645.1:n.4493G>T | ||
| ENST00000683796.1:c.*3697+117G>T | ENSP00000508221.1:n.*3697+117G>T | |
| ENST00000683833.1:c.3816+117G>T | ENSP00000506852.1:n.3816+117G>T | |
| ENST00000683994.1:c.3825+117G>T | ENSP00000507181.1:n.3825+117G>T | |
| ENST00000684290.1:c.*1361+117G>T | ENSP00000507243.1:n.*1361+117G>T | |
| ENST00000684306.1:c.*3738+117G>T | ENSP00000508384.1:n.*3738+117G>T | |
| ENST00000684341.1:n.3845+117G>T | ||
| ENST00000684383.1:c.*3463+117G>T | ENSP00000506863.1:n.*3463+117G>T | |
| ENST00000684418.1:n.5006+117G>T | ||
| ENST00000684433.1:n.209+117G>T | ||
| ENST00000684454.1:n.3292G>T | ||
| ENST00000684619.1:c.*3697+117G>T | ENSP00000508088.1:n.*3697+117G>T | |
| ENST00000684743.1:n.6570+117G>T | ||
| ENST00000260665.12:c.3825+117G>T MANE Select | ENSP00000260665.7:n.3825+117G>T | |
| ENST00000260665.11:c.3825+117G>T | ENSP00000260665.7:n.3825+117G>T | |
| ENST00000419884.5:c.66+117G>T | ENSP00000414207.1:n.66+117G>T | |
| ENST00000463456.5:n.2868+117G>T | ||
| ENST00000472420.5:n.222+117G>T | ||
| ENST00000483489.1:n.299+117G>T | ||
| NM_133259.3:c.3825+117G>T | NP_573566.2:n.3825+117G>T | |
| XM_006711915.2:c.3747+117G>T | XP_006711978.1:n.3747+117G>T | |
| XM_011532473.1:c.3825+117G>T | XP_011530775.1:n.3825+117G>T | |
| XM_011532474.1:c.3825+117G>T | XP_011530776.1:n.3825+117G>T | |
| XM_017003117.1:c.3747+117G>T | XP_016858606.1:n.3747+117G>T | |
| XR_002958896.1:n.3867+117G>T | ||
| NM_133259.4:c.3825+117G>T MANE Select | NP_573566.2:n.3825+117G>T |