Linked Data
dbSNP Id:
rs1369189365
gnomAD v2:
7-44185743-C-A
gnomAD v3:
7-44146144-C-A
gnomAD v4:
7-44146144-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44146144C>A , CM000669.2:g.44146144C>A | GRCh38 |
| NC_000007.13:g.44185743C>A , CM000669.1:g.44185743C>A | GRCh37 |
| NC_000007.12:g.44152268C>A | NCBI36 |
| NG_008847.1:g.48280G>T | |
| NG_008847.2:g.57027G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*1017+319G>T | ENSP00000379142.4:n.*1017+319G>T | |
| ENST00000616242.5:c.*139+319G>T | ENSP00000482149.2:n.*139+319G>T | |
| ENST00000683378.1:n.245+319G>T | ||
| ENST00000336642.9:c.-18G>T | ENSP00000338009.5:n.-18G>T | |
| ENST00000345378.7:c.1022+319G>T | ENSP00000223366.2:n.1022+319G>T | |
| ENST00000403799.8:c.1019+319G>T MANE Select | ENSP00000384247.3:n.1019+319G>T | |
| ENST00000671824.1:c.1082+319G>T | ENSP00000500264.1:n.1082+319G>T | |
| ENST00000673284.1:c.1019+319G>T | ENSP00000499852.1:n.1019+319G>T | |
| ENST00000336642.8:c.1G>T | ENSP00000338009.4:p.Gly1Cys | |
| ENST00000345378.6:c.1022+319G>T | ENSP00000223366.2:n.1022+319G>T | |
| ENST00000395796.7:c.1016+319G>T | ENSP00000379142.3:n.1016+319G>T | |
| ENST00000403799.7:c.1019+319G>T | ENSP00000384247.3:n.1019+319G>T | |
| ENST00000437084.1:c.968+319G>T | ENSP00000402840.1:n.968+319G>T | |
| ENST00000473353.1:n.317+319G>T | ||
| ENST00000616242.4:c.1016+319G>T | ENSP00000482149.1:n.1016+319G>T | |
| NM_000162.3:c.1019+319G>T | NP_000153.1:n.1019+319G>T | |
| NM_033507.1:c.1022+319G>T | NP_277042.1:n.1022+319G>T | |
| NM_033508.1:c.1016+319G>T | NP_277043.1:n.1016+319G>T | |
| NM_000162.4:c.1019+319G>T | NP_000153.1:n.1019+319G>T | |
| NM_001354800.1:c.1019+319G>T | NP_001341729.1:n.1019+319G>T | |
| NM_001354801.1:c.9-414G>T | NP_001341730.1:n.9-414G>T | |
| NM_001354802.1:c.-357G>T | NP_001341731.1:n.-357G>T | |
| NM_001354803.1:c.-18G>T | NP_001341732.1:n.-18G>T | |
| NM_033507.2:c.1022+319G>T | NP_277042.1:n.1022+319G>T | |
| NM_033508.2:c.1016+319G>T | NP_277043.1:n.1016+319G>T | |
| NM_000162.5:c.1019+319G>T MANE Select | NP_000153.1:n.1019+319G>T | |
| NM_033507.3:c.1022+319G>T | NP_277042.1:n.1022+319G>T | |
| NM_033508.3:c.1016+319G>T | NP_277043.1:n.1016+319G>T | |
| NM_001354803.2:c.-18G>T | NP_001341732.1:n.-18G>T |