Linked Data
ClinVar Variation Id:
305770
dbSNP Id:
rs199793417
ExAC:
11:67803916 C / T
gnomAD v2:
11-67803916-C-T
gnomAD v3:
11-68036449-C-T
gnomAD v4:
11-68036449-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68036449C>T , CM000673.2:g.68036449C>T | GRCh38 |
| NC_000011.9:g.67803916C>T , CM000673.1:g.67803916C>T | GRCh37 |
| NC_000011.8:g.67560492C>T | NCBI36 |
| NG_007878.1:g.2434C>T , LRG_115:g.2434C>T | |
| NG_017040.1:g.10833C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313468.10:c.502-13C>T MANE Select | ENSP00000315774.5:n.502-13C>T | |
| ENST00000313468.9:c.502-13C>T | ENSP00000315774.5:n.502-13C>T | |
| ENST00000524810.5:c.434-13C>T | ||
| ENST00000526339.5:c.502-13C>T | ENSP00000436287.1:n.502-13C>T | |
| ENST00000526446.5:c.*557-13C>T | ENSP00000433645.1:n.*557-13C>T | |
| ENST00000528492.1:c.64-13C>T | ENSP00000432848.1:n.64-13C>T | |
| ENST00000531282.1:n.354-13C>T | ||
| NM_002496.3:c.502-13C>T | NP_002487.1:n.502-13C>T | |
| XM_005274013.1:c.502-13C>T | XP_005274070.1:n.502-13C>T | |
| XM_005274014.1:c.502-13C>T | XP_005274071.1:n.502-13C>T | |
| XM_005274015.1:c.382-13C>T | XP_005274072.1:n.382-13C>T | |
| XM_011545053.1:c.502-13C>T | XP_011543355.1:n.502-13C>T | |
| NM_002496.4:c.502-13C>T MANE Select | NP_002487.1:n.502-13C>T |