Linked Data
dbSNP Id:
rs191727827
gnomAD v2:
11-69463004-C-G
gnomAD v3:
11-69648236-C-G
gnomAD v4:
11-69648236-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69648236C>G , CM000673.2:g.69648236C>G | GRCh38 |
| NC_000011.9:g.69463004C>G , CM000673.1:g.69463004C>G | GRCh37 |
| NC_000011.8:g.69172185C>G | NCBI36 |
| NG_007375.1:g.12132C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227507.3:c.723+94C>G MANE Select | ENSP00000227507.2:n.723+94C>G | |
| ENST00000227507.2:c.723+94C>G | ENSP00000227507.2:n.723+94C>G | |
| ENST00000536559.1:c.*237C>G | ENSP00000438482.1:n.*237C>G | |
| ENST00000542367.1:n.186+94C>G | ||
| NM_053056.2:c.723+94C>G | NP_444284.1:n.723+94C>G | |
| XM_006718653.2:c.747+94C>G | XP_006718716.1:n.747+94C>G | |
| NM_053056.3:c.723+94C>G MANE Select | NP_444284.1:n.723+94C>G |