Linked Data
dbSNP Id:
rs781392282
ExAC:
11:65978579 G / A
gnomAD v2:
11-65978579-G-A
gnomAD v3:
11-66211108-G-A
gnomAD v4:
11-66211108-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66211108G>A , CM000673.2:g.66211108G>A | GRCh38 |
| NC_000011.9:g.65978579G>A , CM000673.1:g.65978579G>A | GRCh37 |
| NC_000011.8:g.65735155G>A | NCBI36 |
| NG_033900.1:g.145756G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320580.9:c.535-26G>A MANE Select | ENSP00000316454.4:n.535-26G>A | |
| ENST00000320580.8:c.535-26G>A | ENSP00000316454.4:n.535-26G>A | |
| ENST00000527224.1:n.659-26G>A | ||
| ENST00000527380.1:c.241-26G>A | ENSP00000432639.1:n.241-26G>A | |
| ENST00000533756.5:c.226-26G>A | ENSP00000437150.1:n.226-26G>A | |
| NM_018026.3:c.535-26G>A | NP_060496.2:n.535-26G>A | |
| XM_011545162.1:c.214-26G>A | XP_011543464.1:n.214-26G>A | |
| XM_011545163.1:c.205-26G>A | XP_011543465.1:n.205-26G>A | |
| XM_011545164.1:c.196-26G>A | XP_011543466.1:n.196-26G>A | |
| XM_011545164.2:c.196-26G>A | XP_011543466.1:n.196-26G>A | |
| XR_001747924.1:n.746-26G>A | ||
| NM_018026.4:c.535-26G>A MANE Select | NP_060496.2:n.535-26G>A |