Linked Data
dbSNP Id:
rs7764257
gnomAD v2:
6-43224755-A-G
gnomAD v3:
6-43257017-A-G
gnomAD v4:
6-43257017-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.43257017A>G , CM000668.2:g.43257017A>G | GRCh38 |
| NC_000006.11:g.43224755A>G , CM000668.1:g.43224755A>G | GRCh37 |
| NC_000006.10:g.43332733A>G | NCBI36 |
| NG_051244.1:g.18338A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000703836.1:c.862-795A>G | ENSP00000515493.1:n.862-795A>G | |
| ENST00000259750.9:c.862-795A>G MANE Select | ENSP00000259750.4:n.862-795A>G | |
| ENST00000304139.6:c.709-795A>G | ENSP00000307357.6:n.709-795A>G | |
| ENST00000259750.8:c.862-795A>G | ENSP00000259750.4:n.862-795A>G | |
| ENST00000304139.5:c.709-795A>G | ENSP00000307357.5:n.709-795A>G | |
| NM_032538.1:c.862-795A>G | NP_115927.1:n.862-795A>G | |
| XM_011514945.1:c.955-795A>G | XP_011513247.1:n.955-795A>G | |
| XM_011514946.1:c.955-795A>G | XP_011513248.1:n.955-795A>G | |
| XM_011514947.1:c.862-795A>G | XP_011513249.1:n.862-795A>G | |
| NM_032538.2:c.862-795A>G | NP_115927.1:n.862-795A>G | |
| XM_011514947.2:c.862-795A>G | XP_011513249.1:n.862-795A>G | |
| XM_017011364.1:c.862-795A>G | XP_016866853.1:n.862-795A>G | |
| XM_017011365.1:c.862-795A>G | XP_016866854.1:n.862-795A>G | |
| XM_017011366.1:c.862-795A>G | XP_016866855.1:n.862-795A>G | |
| XM_017011367.1:c.862-795A>G | XP_016866856.1:n.862-795A>G | |
| NM_032538.3:c.862-795A>G MANE Select | NP_115927.1:n.862-795A>G |