Linked Data
ClinVar Variation Id:
2417630
ClinVar RCV Id:
RCV003115099
dbSNP Id:
rs376834333
ExAC:
11:45827374 C / T
gnomAD v2:
11-45827374-C-T
gnomAD v4:
11-45805823-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.45805823C>T , CM000673.2:g.45805823C>T | GRCh38 |
| NC_000011.9:g.45827374C>T , CM000673.1:g.45827374C>T | GRCh37 |
| NC_000011.8:g.45783950C>T | NCBI36 |
| NG_009875.1:g.6752C>T , LRG_107:g.6752C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526817.2:c.-18C>T | ENSP00000432145.2:n.-18C>T | |
| ENST00000314134.4:c.22C>T MANE Select | ENSP00000313318.3:p.Arg8Trp | |
| ENST00000314134.3:c.22C>T | ENSP00000313318.3:p.Arg8Trp | |
| ENST00000442528.2:c.-18C>T | ENSP00000412408.2:n.-18C>T | |
| ENST00000526817.1:c.-18C>T | ENSP00000432145.1:n.-18C>T | |
| ENST00000530471.1:c.-18C>T | ENSP00000432669.1:n.-18C>T | |
| NM_001145265.1:c.-18C>T | NP_001138737.1:n.-18C>T | |
| NM_001145266.1:c.-18C>T | NP_001138738.1:n.-18C>T | |
| NM_018389.4:c.22C>T , LRG_107t1:c.22C>T | NP_060859.4:p.Arg8Trp | |
| XM_011520203.1:c.22C>T | XP_011518505.1:p.Arg8Trp | |
| XM_011520203.3:c.22C>T | XP_011518505.1:p.Arg8Trp | |
| NM_001145265.2:c.-18C>T | NP_001138737.1:n.-18C>T | |
| NM_018389.5:c.22C>T MANE Select | NP_060859.4:p.Arg8Trp |