Linked Data
dbSNP Id:
rs11097432
gnomAD v2:
4-95579705-T-C
gnomAD v3:
4-94658554-T-C
gnomAD v4:
4-94658554-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.94658554T>C , CM000666.2:g.94658554T>C | GRCh38 |
| NC_000004.11:g.95579705T>C , CM000666.1:g.95579705T>C | GRCh37 |
| NC_000004.10:g.95798728T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000317968.9:c.1585+1007T>C MANE Select | ENSP00000321746.4:n.1585+1007T>C | |
| ENST00000317968.8:c.1585+1007T>C | ENSP00000321746.4:n.1585+1007T>C | |
| ENST00000380176.7:n.1478+1007T>C | ||
| ENST00000437932.5:c.610+1007T>C | ENSP00000398469.2:n.610+1007T>C | |
| ENST00000503974.5:c.1276+1007T>C | ENSP00000424297.1:n.1276+1007T>C | |
| ENST00000514743.5:c.1672+1007T>C | ENSP00000424360.1:n.1672+1007T>C | |
| ENST00000542407.5:c.1258+1007T>C | ENSP00000442187.2:n.1258+1007T>C | |
| ENST00000615540.4:c.1672+1007T>C | ENSP00000480359.1:n.1672+1007T>C | |
| ENST00000627587.2:c.*1313+1007T>C | ENSP00000486938.1:n.*1313+1007T>C | |
| NM_001011513.3:c.1258+1007T>C | NP_001011513.3:n.1258+1007T>C | |
| NM_001256425.1:c.610+1007T>C | NP_001243354.1:n.610+1007T>C | |
| NM_001256426.1:c.1672+1007T>C | NP_001243355.1:n.1672+1007T>C | |
| NM_001256427.1:c.1276+1007T>C | NP_001243356.1:n.1276+1007T>C | |
| NM_001256428.1:c.1219+1007T>C | NP_001243357.1:n.1219+1007T>C | |
| NM_006457.4:c.1585+1007T>C | NP_006448.4:n.1585+1007T>C | |
| XM_005262693.3:c.1999+1007T>C | XP_005262750.1:n.1999+1007T>C | |
| XM_005262695.3:c.1981+1007T>C | XP_005262752.1:n.1981+1007T>C | |
| XM_005262696.3:c.1654+1007T>C | XP_005262753.1:n.1654+1007T>C | |
| XM_005262698.3:c.1276+1007T>C | XP_005262755.1:n.1276+1007T>C | |
| XM_006714066.2:c.2014+1007T>C | XP_006714129.1:n.2014+1007T>C | |
| XM_006714067.2:c.2014+1007T>C | XP_006714130.1:n.2014+1007T>C | |
| XM_006714068.2:c.1687+1007T>C | XP_006714131.1:n.1687+1007T>C | |
| XM_006714069.2:c.1618+1007T>C | XP_006714132.1:n.1618+1007T>C | |
| XM_006714070.2:c.1612+1007T>C | XP_006714133.1:n.1612+1007T>C | |
| XM_011531543.1:c.1597+1007T>C | XP_011529845.1:n.1597+1007T>C | |
| XM_005262693.5:c.1999+1007T>C | XP_005262750.1:n.1999+1007T>C | |
| XM_005262695.5:c.1981+1007T>C | XP_005262752.1:n.1981+1007T>C | |
| XM_005262696.4:c.1654+1007T>C | XP_005262753.1:n.1654+1007T>C | |
| XM_005262698.4:c.1276+1007T>C | XP_005262755.1:n.1276+1007T>C | |
| XM_006714066.4:c.2014+1007T>C | XP_006714129.1:n.2014+1007T>C | |
| XM_006714068.3:c.1687+1007T>C | XP_006714131.1:n.1687+1007T>C | |
| XM_006714069.4:c.1618+1007T>C | XP_006714132.1:n.1618+1007T>C | |
| XM_006714070.3:c.1612+1007T>C | XP_006714133.1:n.1612+1007T>C | |
| XM_011531543.3:c.1597+1007T>C | XP_011529845.1:n.1597+1007T>C | |
| XM_017007657.2:c.1603+1007T>C | XP_016863146.1:n.1603+1007T>C | |
| XM_017007658.1:c.1291+1007T>C | XP_016863147.1:n.1291+1007T>C | |
| NM_001011513.4:c.1258+1007T>C | NP_001011513.4:n.1258+1007T>C | |
| NM_001256427.2:c.1276+1007T>C | NP_001243356.2:n.1276+1007T>C | |
| NM_001256428.2:c.1219+1007T>C | NP_001243357.2:n.1219+1007T>C | |
| NM_006457.5:c.1585+1007T>C MANE Select | NP_006448.5:n.1585+1007T>C | |
| NM_001256425.2:c.610+1007T>C | NP_001243354.2:n.610+1007T>C | |
| NM_001256426.2:c.1672+1007T>C | NP_001243355.2:n.1672+1007T>C |