Linked Data
ClinVar Variation Id:
349521
ClinVar RCV Id:
RCV000350274
dbSNP Id:
rs182854472
gnomAD v3:
4-70645840-C-T
gnomAD v4:
4-70645840-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.70645840C>T , CM000666.2:g.70645840C>T | GRCh38 |
| NC_000004.11:g.71511557C>T , CM000666.1:g.71511557C>T | GRCh37 |
| NC_000004.10:g.71730421C>T | NCBI36 |
| NG_013024.1:g.22097C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396073.4:c.*985C>T MANE Select | ENSP00000379383.4:n.*985C>T | |
| ENST00000396073.3:c.*985C>T | ENSP00000379383.3:n.*985C>T | |
| ENST00000472903.5:n.99+7997C>T | ||
| NM_031889.2:c.*985C>T | NP_114095.2:n.*985C>T | |
| XM_006714056.2:c.*985C>T | XP_006714119.1:n.*985C>T | |
| XM_006714056.4:c.*985C>T | XP_006714119.1:n.*985C>T | |
| NM_001368133.1:c.*985C>T | NP_001355062.1:n.*985C>T | |
| NM_031889.3:c.*985C>T MANE Select | NP_114095.2:n.*985C>T |