Linked Data
dbSNP Id:
rs1435014267
gnomAD v2:
1-92731837-G-T
gnomAD v3:
1-92266280-G-T
gnomAD v4:
1-92266280-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.92266280G>T , CM000663.2:g.92266280G>T | GRCh38 |
| NC_000001.10:g.92731837G>T , CM000663.1:g.92731837G>T | GRCh37 |
| NC_000001.9:g.92504425G>T | NCBI36 |
| NG_009796.1:g.37730C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370360.8:c.1214+139C>A MANE Select | ENSP00000359385.3:n.1214+139C>A | |
| ENST00000370360.7:c.1214+139C>A | ENSP00000359385.3:n.1214+139C>A | |
| ENST00000463560.1:c.562+260C>A | ||
| ENST00000495106.5:c.1214+139C>A | ENSP00000436829.1:n.1214+139C>A | |
| ENST00000495852.6:c.437+139C>A | ENSP00000469157.2:n.437+139C>A | |
| NM_053274.2:c.1214+139C>A | NP_444504.1:n.1214+139C>A | |
| XM_005270400.1:c.1172+139C>A | XP_005270457.1:n.1172+139C>A | |
| XM_005270401.2:c.1088+139C>A | XP_005270458.1:n.1088+139C>A | |
| XM_006710309.1:c.713+139C>A | XP_006710372.1:n.713+139C>A | |
| XM_011540544.1:c.1214+139C>A | XP_011538846.1:n.1214+139C>A | |
| XM_011540545.1:c.1214+139C>A | XP_011538847.1:n.1214+139C>A | |
| XM_011540546.1:c.1214+139C>A | XP_011538848.1:n.1214+139C>A | |
| XR_946529.1:n.1309+260C>A | ||
| NM_001319683.1:c.1172+139C>A | NP_001306612.1:n.1172+139C>A | |
| NR_135089.1:n.1329+139C>A | ||
| XM_005270401.3:c.1088+139C>A | XP_005270458.1:n.1088+139C>A | |
| XM_006710309.2:c.713+139C>A | XP_006710372.1:n.713+139C>A | |
| XM_011540546.2:c.1214+139C>A | XP_011538848.1:n.1214+139C>A | |
| XM_017000137.1:c.1313+139C>A | XP_016855626.1:n.1313+139C>A | |
| XM_017000138.1:c.1271+139C>A | XP_016855627.1:n.1271+139C>A | |
| XM_017000139.1:c.1293+260C>A | XP_016855628.1:n.1293+260C>A | |
| XM_017000140.1:c.1187+139C>A | XP_016855629.1:n.1187+139C>A | |
| XM_017000141.1:c.1194+260C>A | XP_016855630.1:n.1194+260C>A | |
| XM_017000142.1:c.671+139C>A | XP_016855631.1:n.671+139C>A | |
| XM_017000143.1:c.671+139C>A | XP_016855632.1:n.671+139C>A | |
| XM_017000144.1:c.443+139C>A | XP_016855633.1:n.443+139C>A | |
| XR_002959248.1:n.1677+260C>A | ||
| XR_002959249.1:n.1309+260C>A | ||
| NM_053274.3:c.1214+139C>A MANE Select | NP_444504.1:n.1214+139C>A | |
| NM_001319683.2:c.1172+139C>A | NP_001306612.1:n.1172+139C>A | |
| NR_135089.2:n.1307+139C>A |