Linked Data
dbSNP Id:
rs2144719
gnomAD v2:
1-66823134-G-T
gnomAD v3:
1-66357451-G-T
gnomAD v4:
1-66357451-G-T
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.66357451G>T , CM000663.2:g.66357451G>T | GRCh38 |
| NC_000001.10:g.66823134G>T , CM000663.1:g.66823134G>T | GRCh37 |
| NC_000001.9:g.66595722G>T | NCBI36 |
| NG_029038.1:g.569942G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000341517.9:c.841+1831G>T MANE Select | ENSP00000342637.4:n.841+1831G>T | |
| ENST00000329654.8:c.841+1831G>T | ENSP00000332116.4:n.841+1831G>T | |
| ENST00000341517.8:c.841+1831G>T | ENSP00000342637.4:n.841+1831G>T | |
| ENST00000371045.9:c.325+1831G>T | ENSP00000360084.5:n.325+1831G>T | |
| ENST00000423207.6:c.796+1831G>T | ENSP00000392947.2:n.796+1831G>T | |
| ENST00000480109.2:c.142+1831G>T | ENSP00000432592.1:n.142+1831G>T | |
| ENST00000526197.5:c.184+1831G>T | ENSP00000436104.1:n.184+1831G>T | |
| ENST00000528771.5:c.184+1831G>T | ENSP00000431909.1:n.184+1831G>T | |
| ENST00000531025.5:c.184+1831G>T | ENSP00000437249.1:n.184+1831G>T | |
| ENST00000534463.5:n.496+1831G>T | ||
| NM_001037339.2:c.325+1831G>T | NP_001032416.1:n.325+1831G>T | |
| NM_001037340.2:c.796+1831G>T | NP_001032417.1:n.796+1831G>T | |
| NM_001037341.1:c.841+1831G>T | NP_001032418.1:n.841+1831G>T | |
| NM_001297440.1:c.565+1831G>T | NP_001284369.1:n.565+1831G>T | |
| NM_001297441.1:c.616+1831G>T | NP_001284370.1:n.616+1831G>T | |
| NM_001297442.1:c.142+1831G>T | NP_001284371.1:n.142+1831G>T | |
| NM_002600.3:c.841+1831G>T | NP_002591.2:n.841+1831G>T | |
| XM_005270923.3:c.250+1831G>T | XP_005270980.1:n.250+1831G>T | |
| XM_005270924.3:c.184+1831G>T | XP_005270981.1:n.184+1831G>T | |
| XM_005270925.2:c.184+1831G>T | XP_005270982.1:n.184+1831G>T | |
| XM_006710680.2:c.226+1831G>T | XP_006710743.1:n.226+1831G>T | |
| XM_011541565.1:c.577+1831G>T | XP_011539867.1:n.577+1831G>T | |
| XM_011541566.1:c.223+1831G>T | XP_011539868.1:n.223+1831G>T | |
| XM_006710680.3:c.226+1831G>T | XP_006710743.1:n.226+1831G>T | |
| XM_017001445.1:c.424+1831G>T | XP_016856934.1:n.424+1831G>T | |
| NM_002600.4:c.841+1831G>T MANE Select | NP_002591.2:n.841+1831G>T | |
| NM_001297442.2:c.142+1831G>T | NP_001284371.1:n.142+1831G>T | |
| NM_001037340.3:c.796+1831G>T | NP_001032417.1:n.796+1831G>T | |
| NM_001037341.2:c.841+1831G>T | NP_001032418.1:n.841+1831G>T | |
| NM_001297440.2:c.565+1831G>T | NP_001284369.1:n.565+1831G>T |