Linked Data
dbSNP Id:
rs3917733
gnomAD v2:
1-169580510-C-T
gnomAD v3:
1-169611272-C-T
gnomAD v4:
1-169611272-C-T
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169611272C>T , CM000663.2:g.169611272C>T | GRCh38 |
| NC_000001.10:g.169580510C>T , CM000663.1:g.169580510C>T | GRCh37 |
| NC_000001.9:g.167847134C>T | NCBI36 |
| NG_012125.1:g.23868G>A | |
| NG_012125.2:g.23868G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263686.11:c.1147+220G>A MANE Select | ENSP00000263686.5:n.1147+220G>A | |
| ENST00000263686.10:c.1147+220G>A | ENSP00000263686.5:n.1147+220G>A | |
| ENST00000367786.6:c.961+945G>A | ENSP00000356760.1:n.961+945G>A | |
| ENST00000367788.6:c.961+220G>A | ENSP00000356762.1:n.961+220G>A | |
| ENST00000367795.2:c.961+945G>A | ENSP00000356769.2:n.961+945G>A | |
| ENST00000426706.6:c.1144+220G>A | ENSP00000391694.2:n.1144+220G>A | |
| ENST00000458599.6:c.961+945G>A | ENSP00000399368.2:n.961+945G>A | |
| NM_003005.3:c.1147+220G>A | NP_002996.2:n.1147+220G>A | |
| XM_005245435.1:c.1147+220G>A | XP_005245492.1:n.1147+220G>A | |
| XM_005245436.2:c.1147+220G>A | XP_005245493.1:n.1147+220G>A | |
| XM_005245438.1:c.1147+220G>A | XP_005245495.1:n.1147+220G>A | |
| XM_005245439.1:c.1147+220G>A | XP_005245496.1:n.1147+220G>A | |
| XM_005245440.1:c.961+945G>A | XP_005245497.1:n.961+945G>A | |
| XM_005245435.2:c.1147+220G>A | XP_005245492.1:n.1147+220G>A | |
| XM_005245436.4:c.1147+220G>A | XP_005245493.1:n.1147+220G>A | |
| XM_005245438.2:c.1147+220G>A | XP_005245495.1:n.1147+220G>A | |
| XM_005245439.2:c.1147+220G>A | XP_005245496.1:n.1147+220G>A | |
| XM_005245440.2:c.961+945G>A | XP_005245497.1:n.961+945G>A | |
| NM_003005.4:c.1147+220G>A MANE Select | NP_002996.2:n.1147+220G>A |