Linked Data
dbSNP Id:
rs8057927
gnomAD v2:
16-82692812-T-C
gnomAD v3:
16-82659207-T-C
gnomAD v4:
16-82659207-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.82659207T>C , CM000678.2:g.82659207T>C | GRCh38 |
| NC_000016.9:g.82692812T>C , CM000678.1:g.82692812T>C | GRCh37 |
| NC_000016.8:g.81250313T>C | NCBI36 |
| NG_052819.1:g.37414T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000567109.6:c.45+32070T>C MANE Select | ENSP00000479395.1:n.45+32070T>C | |
| ENST00000268613.14:c.186+19742T>C | ENSP00000268613.10:n.186+19742T>C | |
| ENST00000428848.7:c.45+32070T>C | ENSP00000394557.3:n.45+32070T>C | |
| ENST00000431540.7:c.45+32070T>C | ENSP00000408632.3:n.45+32070T>C | |
| ENST00000539548.6:c.45+32070T>C | ENSP00000442225.2:n.45+32070T>C | |
| ENST00000562601.5:c.45+32070T>C | ENSP00000455781.1:n.45+32070T>C | |
| ENST00000565636.5:c.45+32070T>C | ENSP00000456491.1:n.45+32070T>C | |
| ENST00000566333.1:n.167+32070T>C | ||
| ENST00000567109.5:c.45+32070T>C | ENSP00000479395.1:n.45+32070T>C | |
| ENST00000567445.1:c.45+32070T>C | ENSP00000456297.1:n.45+32070T>C | |
| ENST00000568770.5:c.45+32070T>C | ENSP00000457149.1:n.45+32070T>C | |
| ENST00000569144.5:c.45+32070T>C | ENSP00000457914.1:n.45+32070T>C | |
| ENST00000569455.1:n.450+12875T>C | ||
| NM_001220488.1:c.186+19742T>C | NP_001207417.1:n.186+19742T>C | |
| NM_001220489.1:c.45+32070T>C | NP_001207418.1:n.45+32070T>C | |
| NM_001220490.1:c.-509+32070T>C | NP_001207419.1:n.-509+32070T>C | |
| NM_001220491.1:c.45+32070T>C | NP_001207420.1:n.45+32070T>C | |
| NM_001220492.1:c.45+32070T>C | NP_001207421.1:n.45+32070T>C | |
| NM_001257.4:c.45+32070T>C | NP_001248.1:n.45+32070T>C | |
| XM_011522805.1:c.186+19742T>C | XP_011521107.1:n.186+19742T>C | |
| XM_017022848.2:c.186+19742T>C | XP_016878337.1:n.186+19742T>C | |
| XM_017022849.2:c.186+19742T>C | XP_016878338.1:n.186+19742T>C | |
| NM_001257.5:c.45+32070T>C MANE Select | NP_001248.1:n.45+32070T>C | |
| NM_001220488.2:c.186+19742T>C | NP_001207417.1:n.186+19742T>C | |
| NM_001220489.2:c.45+32070T>C | NP_001207418.1:n.45+32070T>C | |
| NM_001220490.2:c.-509+32070T>C | NP_001207419.1:n.-509+32070T>C | |
| NM_001220491.2:c.45+32070T>C | NP_001207420.1:n.45+32070T>C | |
| NM_001220492.2:c.45+32070T>C | NP_001207421.1:n.45+32070T>C |