Linked Data
dbSNP Id:
rs1274933838
gnomAD v2:
7-44185742-C-T
gnomAD v3:
7-44146143-C-T
gnomAD v4:
7-44146143-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44146143C>T , CM000669.2:g.44146143C>T | GRCh38 |
| NC_000007.13:g.44185742C>T , CM000669.1:g.44185742C>T | GRCh37 |
| NC_000007.12:g.44152267C>T | NCBI36 |
| NG_008847.1:g.48281G>A | |
| NG_008847.2:g.57028G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*1017+320G>A | ENSP00000379142.4:n.*1017+320G>A | |
| ENST00000616242.5:c.*139+320G>A | ENSP00000482149.2:n.*139+320G>A | |
| ENST00000683378.1:n.245+320G>A | ||
| ENST00000336642.9:c.-17G>A | ENSP00000338009.5:n.-17G>A | |
| ENST00000345378.7:c.1022+320G>A | ENSP00000223366.2:n.1022+320G>A | |
| ENST00000403799.8:c.1019+320G>A MANE Select | ENSP00000384247.3:n.1019+320G>A | |
| ENST00000671824.1:c.1082+320G>A | ENSP00000500264.1:n.1082+320G>A | |
| ENST00000673284.1:c.1019+320G>A | ENSP00000499852.1:n.1019+320G>A | |
| ENST00000336642.8:c.2G>A | ENSP00000338009.4:p.Gly1Asp | |
| ENST00000345378.6:c.1022+320G>A | ENSP00000223366.2:n.1022+320G>A | |
| ENST00000395796.7:c.1016+320G>A | ENSP00000379142.3:n.1016+320G>A | |
| ENST00000403799.7:c.1019+320G>A | ENSP00000384247.3:n.1019+320G>A | |
| ENST00000437084.1:c.968+320G>A | ENSP00000402840.1:n.968+320G>A | |
| ENST00000473353.1:n.317+320G>A | ||
| ENST00000616242.4:c.1016+320G>A | ENSP00000482149.1:n.1016+320G>A | |
| NM_000162.3:c.1019+320G>A | NP_000153.1:n.1019+320G>A | |
| NM_033507.1:c.1022+320G>A | NP_277042.1:n.1022+320G>A | |
| NM_033508.1:c.1016+320G>A | NP_277043.1:n.1016+320G>A | |
| NM_000162.4:c.1019+320G>A | NP_000153.1:n.1019+320G>A | |
| NM_001354800.1:c.1019+320G>A | NP_001341729.1:n.1019+320G>A | |
| NM_001354801.1:c.9-413G>A | NP_001341730.1:n.9-413G>A | |
| NM_001354802.1:c.-356G>A | NP_001341731.1:n.-356G>A | |
| NM_001354803.1:c.-17G>A | NP_001341732.1:n.-17G>A | |
| NM_033507.2:c.1022+320G>A | NP_277042.1:n.1022+320G>A | |
| NM_033508.2:c.1016+320G>A | NP_277043.1:n.1016+320G>A | |
| NM_000162.5:c.1019+320G>A MANE Select | NP_000153.1:n.1019+320G>A | |
| NM_033507.3:c.1022+320G>A | NP_277042.1:n.1022+320G>A | |
| NM_033508.3:c.1016+320G>A | NP_277043.1:n.1016+320G>A | |
| NM_001354803.2:c.-17G>A | NP_001341732.1:n.-17G>A |