Linked Data
dbSNP Id:
rs780017858
ExAC:
11:65978587 C / G
gnomAD v2:
11-65978587-C-G
gnomAD v4:
11-66211116-C-G
MyVariant Identifiers:
chr11:g.65978587C>G (hg19)
chr11:g.65978587_65978589delinsGTG (hg19)
chr11:g.66211116C>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66211116C>G , CM000673.2:g.66211116C>G | GRCh38 |
| NC_000011.9:g.65978587C>G , CM000673.1:g.65978587C>G | GRCh37 |
| NC_000011.8:g.65735163C>G | NCBI36 |
| NG_033900.1:g.145764C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320580.9:c.535-18C>G MANE Select | ENSP00000316454.4:n.535-18C>G | |
| ENST00000320580.8:c.535-18C>G | ENSP00000316454.4:n.535-18C>G | |
| ENST00000527224.1:n.659-18C>G | ||
| ENST00000527380.1:c.241-18C>G | ENSP00000432639.1:n.241-18C>G | |
| ENST00000533756.5:c.226-18C>G | ENSP00000437150.1:n.226-18C>G | |
| NM_018026.3:c.535-18C>G | NP_060496.2:n.535-18C>G | |
| XM_011545162.1:c.214-18C>G | XP_011543464.1:n.214-18C>G | |
| XM_011545163.1:c.205-18C>G | XP_011543465.1:n.205-18C>G | |
| XM_011545164.1:c.196-18C>G | XP_011543466.1:n.196-18C>G | |
| XM_011545164.2:c.196-18C>G | XP_011543466.1:n.196-18C>G | |
| XR_001747924.1:n.746-18C>G | ||
| NM_018026.4:c.535-18C>G MANE Select | NP_060496.2:n.535-18C>G |