Linked Data
dbSNP Id:
rs694066
gnomAD v2:
11-68452985-G-A
gnomAD v3:
11-68685517-G-A
gnomAD v4:
11-68685517-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68685517G>A , CM000673.2:g.68685517G>A | GRCh38 |
| NC_000011.9:g.68452985G>A , CM000673.1:g.68452985G>A | GRCh37 |
| NC_000011.8:g.68209561G>A | NCBI36 |
| NG_052785.1:g.6043G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265643.4:c.82-77G>A MANE Select | ENSP00000265643.3:n.82-77G>A | |
| ENST00000265643.3:c.82-77G>A | ENSP00000265643.3:n.82-77G>A | |
| NM_015973.3:c.82-77G>A | NP_057057.2:n.82-77G>A | |
| NM_015973.4:c.82-77G>A | NP_057057.2:n.82-77G>A | |
| XR_001748281.1:n.230+2324C>T | ||
| NM_015973.5:c.82-77G>A MANE Select | NP_057057.2:n.82-77G>A |