Linked Data
ClinVar Variation Id:
336151
dbSNP Id:
rs543620356
gnomAD v2:
2-44132825-A-T
gnomAD v3:
2-43905686-A-T
gnomAD v4:
2-43905686-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43905686A>T , CM000664.2:g.43905686A>T | GRCh38 |
| NC_000002.11:g.44132825A>T , CM000664.1:g.44132825A>T | GRCh37 |
| NC_000002.10:g.43986329A>T | NCBI36 |
| NG_008247.1:g.95320T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000472420.6:n.443+6T>A | ||
| ENST00000681993.1:n.916+6T>A | ||
| ENST00000682303.1:c.*3150+6T>A | ENSP00000508325.1:n.*3150+6T>A | |
| ENST00000682308.1:c.3364+6T>A | ENSP00000507056.1:n.3364+6T>A | |
| ENST00000682480.1:c.3382+6T>A | ENSP00000508344.1:n.3382+6T>A | |
| ENST00000682546.1:c.3361+6T>A | ENSP00000508188.1:n.3361+6T>A | |
| ENST00000682585.1:c.3364+6T>A | ENSP00000506885.1:n.3364+6T>A | |
| ENST00000682595.1:n.3948+6T>A | ||
| ENST00000682607.1:c.1782+6T>A | ||
| ENST00000682612.1:c.216+6T>A | ||
| ENST00000682779.1:c.3355+6T>A | ENSP00000507947.1:n.3355+6T>A | |
| ENST00000682845.1:n.2466+6T>A | ||
| ENST00000682885.1:c.3319+6T>A | ENSP00000508036.1:n.3319+6T>A | |
| ENST00000682933.1:n.3438+6T>A | ||
| ENST00000683002.1:c.216+6T>A | ||
| ENST00000683072.1:n.3948+6T>A | ||
| ENST00000683080.1:n.983+6T>A | ||
| ENST00000683125.1:c.3472+6T>A | ENSP00000507939.1:n.3472+6T>A | |
| ENST00000683213.1:c.3367+6T>A | ENSP00000507751.1:n.3367+6T>A | |
| ENST00000683220.1:c.3394+6T>A | ENSP00000507151.1:n.3394+6T>A | |
| ENST00000683329.1:n.4167+6T>A | ||
| ENST00000683346.1:c.*3239+6T>A | ENSP00000507458.1:n.*3239+6T>A | |
| ENST00000683409.1:n.1971+6T>A | ||
| ENST00000683459.1:n.3951+6T>A | ||
| ENST00000683528.1:c.216+6T>A | ||
| ENST00000683590.1:c.3112+6T>A | ENSP00000506820.1:n.3112+6T>A | |
| ENST00000683623.1:c.3271+6T>A | ENSP00000507702.1:n.3271+6T>A | |
| ENST00000683645.1:n.3915+6T>A | ||
| ENST00000683796.1:c.*3236+6T>A | ENSP00000508221.1:n.*3236+6T>A | |
| ENST00000683802.1:n.6289+6T>A | ||
| ENST00000683833.1:c.3355+6T>A | ENSP00000506852.1:n.3355+6T>A | |
| ENST00000683994.1:c.3364+6T>A | ENSP00000507181.1:n.3364+6T>A | |
| ENST00000684290.1:c.*900+6T>A | ENSP00000507243.1:n.*900+6T>A | |
| ENST00000684306.1:c.*3277+6T>A | ENSP00000508384.1:n.*3277+6T>A | |
| ENST00000684341.1:n.3384+6T>A | ||
| ENST00000684383.1:c.*3002+6T>A | ENSP00000506863.1:n.*3002+6T>A | |
| ENST00000684418.1:n.4545+6T>A | ||
| ENST00000684454.1:n.2714+6T>A | ||
| ENST00000684619.1:c.*3236+6T>A | ENSP00000508088.1:n.*3236+6T>A | |
| ENST00000684743.1:n.4395+6T>A | ||
| ENST00000260665.12:c.3364+6T>A MANE Select | ENSP00000260665.7:n.3364+6T>A | |
| ENST00000260665.11:c.3364+6T>A | ENSP00000260665.7:n.3364+6T>A | |
| NM_133259.3:c.3364+6T>A | NP_573566.2:n.3364+6T>A | |
| XM_006711915.2:c.3286+6T>A | XP_006711978.1:n.3286+6T>A | |
| XM_011532473.1:c.3364+6T>A | XP_011530775.1:n.3364+6T>A | |
| XM_011532474.1:c.3364+6T>A | XP_011530776.1:n.3364+6T>A | |
| XM_017003117.1:c.3286+6T>A | XP_016858606.1:n.3286+6T>A | |
| XR_002958896.1:n.3406+6T>A | ||
| NM_133259.4:c.3364+6T>A MANE Select | NP_573566.2:n.3364+6T>A |