Linked Data
dbSNP Id:
rs749128404
ExAC:
1:43408864 G / A
gnomAD v2:
1-43408864-G-A
gnomAD v3:
1-42943193-G-A
gnomAD v4:
1-42943193-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42943193G>A , CM000663.2:g.42943193G>A | GRCh38 |
| NC_000001.10:g.43408864G>A , CM000663.1:g.43408864G>A | GRCh37 |
| NC_000001.9:g.43181451G>A | NCBI36 |
| NG_008232.1:g.20984C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000426263.10:c.114+33C>T MANE Select | ENSP00000416293.2:n.114+33C>T | |
| ENST00000674765.1:c.114+33C>T | ENSP00000501811.1:n.114+33C>T | |
| ENST00000675112.1:n.137+33C>T | ||
| ENST00000372500.4:c.19-11987C>T | ENSP00000361578.4:n.19-11987C>T | |
| ENST00000415851.6:n.331+33C>T | ||
| ENST00000426263.7:c.114+33C>T | ENSP00000416293.2:n.114+33C>T | |
| ENST00000475162.3:c.13+33C>T | ||
| ENST00000625233.2:n.322+33C>T | ||
| ENST00000628173.1:n.333+33C>T | ||
| ENST00000630287.2:c.114+33C>T | ENSP00000486694.1:n.114+33C>T | |
| ENST00000630821.1:n.364C>T | ||
| NM_006516.2:c.114+33C>T | NP_006507.2:n.114+33C>T | |
| NM_006516.3:c.114+33C>T | NP_006507.2:n.114+33C>T | |
| NM_006516.4:c.114+33C>T MANE Select | NP_006507.2:n.114+33C>T |