Linked Data
dbSNP Id:
rs577968084
ExAC:
7:44187446 C / T
gnomAD v2:
7-44187446-C-T
gnomAD v3:
7-44147847-C-T
gnomAD v4:
7-44147847-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44147847C>T , CM000669.2:g.44147847C>T | GRCh38 |
| NC_000007.13:g.44187446C>T , CM000669.1:g.44187446C>T | GRCh37 |
| NC_000007.12:g.44153971C>T | NCBI36 |
| NG_008847.1:g.46577G>A | |
| NG_008847.2:g.55324G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*678-14G>A | ENSP00000379142.4:n.*678-14G>A | |
| ENST00000616242.5:c.680-14G>A | ENSP00000482149.2:n.680-14G>A | |
| ENST00000345378.7:c.683-14G>A | ENSP00000223366.2:n.683-14G>A | |
| ENST00000403799.8:c.680-14G>A MANE Select | ENSP00000384247.3:n.680-14G>A | |
| ENST00000671824.1:c.680-14G>A | ENSP00000500264.1:n.680-14G>A | |
| ENST00000673284.1:c.680-14G>A | ENSP00000499852.1:n.680-14G>A | |
| ENST00000345378.6:c.683-14G>A | ENSP00000223366.2:n.683-14G>A | |
| ENST00000395796.7:c.677-14G>A | ENSP00000379142.3:n.677-14G>A | |
| ENST00000403799.7:c.680-14G>A | ENSP00000384247.3:n.680-14G>A | |
| ENST00000437084.1:c.629-14G>A | ENSP00000402840.1:n.629-14G>A | |
| ENST00000616242.4:c.677-14G>A | ENSP00000482149.1:n.677-14G>A | |
| NM_000162.3:c.680-14G>A | NP_000153.1:n.680-14G>A | |
| NM_033507.1:c.683-14G>A | NP_277042.1:n.683-14G>A | |
| NM_033508.1:c.677-14G>A | NP_277043.1:n.677-14G>A | |
| XR_927223.1:n.82+99C>T | ||
| NM_000162.4:c.680-14G>A | NP_000153.1:n.680-14G>A | |
| NM_001354800.1:c.680-14G>A | NP_001341729.1:n.680-14G>A | |
| NM_033507.2:c.683-14G>A | NP_277042.1:n.683-14G>A | |
| NM_033508.2:c.677-14G>A | NP_277043.1:n.677-14G>A | |
| XR_927223.2:n.82+99C>T | ||
| NM_000162.5:c.680-14G>A MANE Select | NP_000153.1:n.680-14G>A | |
| NM_033507.3:c.683-14G>A | NP_277042.1:n.683-14G>A | |
| NM_033508.3:c.677-14G>A | NP_277043.1:n.677-14G>A |