Linked Data
ClinVar Variation Id:
1601580
ClinVar RCV Id:
RCV002127353
dbSNP Id:
rs147057792
ExAC:
11:64697778 C / T
gnomAD v2:
11-64697778-C-T
gnomAD v3:
11-64930306-C-T
gnomAD v4:
11-64930306-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.64930306C>T , CM000673.2:g.64930306C>T | GRCh38 |
| NC_000011.9:g.64697778C>T , CM000673.1:g.64697778C>T | GRCh37 |
| NC_000011.8:g.64454354C>T | NCBI36 |
| NG_046897.1:g.17754C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000164133.7:c.723-16C>T MANE Select | ENSP00000164133.2:n.723-16C>T | |
| ENST00000164133.6:c.723-16C>T | ENSP00000164133.2:n.723-16C>T | |
| ENST00000528530.1:n.395-16C>T | ||
| NM_006244.3:c.723-16C>T | NP_006235.1:n.723-16C>T | |
| XM_006718607.2:c.630-16C>T | XP_006718670.1:n.630-16C>T | |
| XM_011545132.1:c.636-16C>T | XP_011543434.1:n.636-16C>T | |
| XM_011545133.1:c.465-16C>T | XP_011543435.1:n.465-16C>T | |
| XM_011545134.1:c.465-16C>T | XP_011543436.1:n.465-16C>T | |
| XM_011545132.2:c.636-16C>T | XP_011543434.1:n.636-16C>T | |
| XM_011545134.3:c.465-16C>T | XP_011543436.1:n.465-16C>T | |
| NM_006244.4:c.723-16C>T MANE Select | NP_006235.1:n.723-16C>T |