Linked Data
dbSNP Id:
rs373565199
gnomAD v2:
2-44121657-A-G
gnomAD v3:
2-43894518-A-G
gnomAD v4:
2-43894518-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43894518A>G , CM000664.2:g.43894518A>G | GRCh38 |
| NC_000002.11:g.44121657A>G , CM000664.1:g.44121657A>G | GRCh37 |
| NC_000002.10:g.43975161A>G | NCBI36 |
| NG_008247.1:g.106488T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000419884.6:c.615+27T>C | ||
| ENST00000681993.1:n.1537+27T>C | ||
| ENST00000682154.1:n.1419+27T>C | ||
| ENST00000682303.1:c.*3696+27T>C | ENSP00000508325.1:n.*3696+27T>C | |
| ENST00000682308.1:c.3910+27T>C | ENSP00000507056.1:n.3910+27T>C | |
| ENST00000682434.1:n.3540+27T>C | ||
| ENST00000682480.1:c.4003+27T>C | ENSP00000508344.1:n.4003+27T>C | |
| ENST00000682546.1:c.3982+27T>C | ENSP00000508188.1:n.3982+27T>C | |
| ENST00000682585.1:c.*113+27T>C | ENSP00000506885.1:n.*113+27T>C | |
| ENST00000682607.1:c.2728+27T>C | ||
| ENST00000682612.1:c.752+2116T>C | ||
| ENST00000682696.1:c.85+27T>C | ENSP00000508411.1:n.85+27T>C | |
| ENST00000682779.1:c.3976+27T>C | ENSP00000507947.1:n.3976+27T>C | |
| ENST00000682885.1:c.3940+27T>C | ENSP00000508036.1:n.3940+27T>C | |
| ENST00000682933.1:n.4185+27T>C | ||
| ENST00000683002.1:c.837+27T>C | ||
| ENST00000683072.1:n.4569+27T>C | ||
| ENST00000683080.1:n.1604+27T>C | ||
| ENST00000683096.1:n.2426+27T>C | ||
| ENST00000683125.1:c.4093+27T>C | ENSP00000507939.1:n.4093+27T>C | |
| ENST00000683213.1:c.3988+27T>C | ENSP00000507751.1:n.3988+27T>C | |
| ENST00000683220.1:c.4015+27T>C | ENSP00000507151.1:n.4015+27T>C | |
| ENST00000683329.1:n.4788+27T>C | ||
| ENST00000683346.1:c.*3860+27T>C | ENSP00000507458.1:n.*3860+27T>C | |
| ENST00000683409.1:n.2517+27T>C | ||
| ENST00000683459.1:n.4572+27T>C | ||
| ENST00000683590.1:c.3658+27T>C | ENSP00000506820.1:n.3658+27T>C | |
| ENST00000683623.1:c.3892+27T>C | ENSP00000507702.1:n.3892+27T>C | |
| ENST00000683796.1:c.*3782+27T>C | ENSP00000508221.1:n.*3782+27T>C | |
| ENST00000683833.1:c.3901+27T>C | ENSP00000506852.1:n.3901+27T>C | |
| ENST00000683994.1:c.*98+27T>C | ENSP00000507181.1:n.*98+27T>C | |
| ENST00000684290.1:c.*1446+27T>C | ENSP00000507243.1:n.*1446+27T>C | |
| ENST00000684306.1:c.*3898+27T>C | ENSP00000508384.1:n.*3898+27T>C | |
| ENST00000684383.1:c.*3623+27T>C | ENSP00000506863.1:n.*3623+27T>C | |
| ENST00000684418.1:n.5166+27T>C | ||
| ENST00000684433.1:n.369+27T>C | ||
| ENST00000684454.1:n.7849+27T>C | ||
| ENST00000684619.1:c.*3857+27T>C | ENSP00000508088.1:n.*3857+27T>C | |
| ENST00000684743.1:n.6730+27T>C | ||
| ENST00000260665.12:c.3985+27T>C MANE Select | ENSP00000260665.7:n.3985+27T>C | |
| ENST00000260665.11:c.3985+27T>C | ENSP00000260665.7:n.3985+27T>C | |
| ENST00000419884.5:c.226+27T>C | ENSP00000414207.1:n.226+27T>C | |
| ENST00000463456.5:n.3028+27T>C | ||
| NM_133259.3:c.3985+27T>C | NP_573566.2:n.3985+27T>C | |
| XM_006711915.2:c.3907+27T>C | XP_006711978.1:n.3907+27T>C | |
| XM_011532473.1:c.3910+27T>C | XP_011530775.1:n.3910+27T>C | |
| XM_011532474.1:c.3985+27T>C | XP_011530776.1:n.3985+27T>C | |
| XM_017003117.1:c.3832+27T>C | XP_016858606.1:n.3832+27T>C | |
| XR_002958896.1:n.4027+27T>C | ||
| NM_133259.4:c.3985+27T>C MANE Select | NP_573566.2:n.3985+27T>C |