Linked Data
ClinVar Variation Id:
3035179
ClinVar RCV Id:
RCV003909664
dbSNP Id:
rs377516196
ExAC:
11:18428869 C / T
gnomAD v2:
11-18428869-C-T
gnomAD v3:
11-18407322-C-T
gnomAD v4:
11-18407322-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.18407322C>T , CM000673.2:g.18407322C>T | GRCh38 |
| NC_000011.9:g.18428869C>T , CM000673.1:g.18428869C>T | GRCh37 |
| NC_000011.8:g.18385445C>T | NCBI36 |
| NG_008185.1:g.17888C>T | |
| NG_011816.1:g.17C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422447.8:c.*41C>T MANE Select | ENSP00000395337.3:n.*41C>T | |
| ENST00000227157.8:c.*190C>T | ENSP00000227157.4:n.*190C>T | |
| ENST00000375710.7:n.1907C>T | ||
| ENST00000379412.9:c.*41C>T | ENSP00000368722.5:n.*41C>T | |
| ENST00000396222.6:c.771C>T | ENSP00000379524.2:p.Asn257= | |
| ENST00000422447.7:c.*41C>T | ENSP00000395337.3:n.*41C>T | |
| ENST00000430553.6:c.*41C>T | ENSP00000406172.2:n.*41C>T | |
| ENST00000538451.1:n.927C>T | ||
| ENST00000540430.5:c.*41C>T | ENSP00000445175.1:n.*41C>T | |
| ENST00000545215.5:c.*784C>T | ENSP00000442637.1:n.*784C>T | |
| NM_001135239.1:c.*41C>T | NP_001128711.1:n.*41C>T | |
| NM_001165414.1:c.*41C>T | NP_001158886.1:n.*41C>T | |
| NM_001165415.1:c.771C>T | NP_001158887.1:p.Asn257= | |
| NM_001165416.1:c.*190C>T | NP_001158888.1:n.*190C>T | |
| NM_005566.3:c.*41C>T | NP_005557.1:n.*41C>T | |
| NR_028500.1:n.1194C>T | ||
| NM_005566.4:c.*41C>T MANE Select | NP_005557.1:n.*41C>T | |
| NM_001165415.2:c.771C>T | NP_001158887.1:p.Asn257= | |
| NM_001135239.2:c.*41C>T | NP_001128711.1:n.*41C>T | |
| NM_001165414.2:c.*41C>T | NP_001158886.1:n.*41C>T | |
| NM_001165416.2:c.*190C>T | NP_001158888.1:n.*190C>T | |
| NR_028500.2:n.1020C>T |