Linked Data
dbSNP Id:
rs2297977
gnomAD v2:
1-43415288-G-T
gnomAD v3:
1-42949617-G-T
gnomAD v4:
1-42949617-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.42949617G>T , CM000663.2:g.42949617G>T | GRCh38 |
| NC_000001.10:g.43415288G>T , CM000663.1:g.43415288G>T | GRCh37 |
| NC_000001.9:g.43187875G>T | NCBI36 |
| NG_008232.1:g.14560C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000426263.10:c.19-6296C>A MANE Select | ENSP00000416293.2:n.19-6296C>A | |
| ENST00000674765.1:c.19-6296C>A | ENSP00000501811.1:n.19-6296C>A | |
| ENST00000675112.1:n.42-6296C>A | ||
| ENST00000372500.4:c.18+9017C>A | ENSP00000361578.4:n.18+9017C>A | |
| ENST00000415851.6:n.236-6296C>A | ||
| ENST00000426263.7:c.19-6296C>A | ENSP00000416293.2:n.19-6296C>A | |
| ENST00000625233.2:n.227-6296C>A | ||
| ENST00000628173.1:n.238-6296C>A | ||
| ENST00000630287.2:c.19-6296C>A | ENSP00000486694.1:n.19-6296C>A | |
| ENST00000630821.1:n.236-6296C>A | ||
| NM_006516.2:c.19-6296C>A | NP_006507.2:n.19-6296C>A | |
| NM_006516.3:c.19-6296C>A | NP_006507.2:n.19-6296C>A | |
| NM_006516.4:c.19-6296C>A MANE Select | NP_006507.2:n.19-6296C>A |