Linked Data
ClinVar Variation Id:
360559
ClinVar RCV Id:
RCV000389246
dbSNP Id:
rs771999951
ExAC:
7:65447189 C / G
gnomAD v2:
7-65447189-C-G
gnomAD v3:
7-65982202-C-G
gnomAD v4:
7-65982202-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.65982202C>G , CM000669.2:g.65982202C>G | GRCh38 |
| NC_000007.13:g.65447189C>G , CM000669.1:g.65447189C>G | GRCh37 |
| NC_000007.12:g.65084624C>G | NCBI36 |
| NG_016197.1:g.5113G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000304895.9:c.-19G>C MANE Select | ENSP00000302728.4:n.-19G>C | |
| ENST00000304895.8:c.-19G>C | ENSP00000302728.4:n.-19G>C | |
| ENST00000421103.5:c.-19G>C | ENSP00000391390.1:n.-19G>C | |
| ENST00000430730.5:c.-19G>C | ENSP00000411859.1:n.-19G>C | |
| ENST00000446111.1:c.-19G>C | ENSP00000416793.1:n.-19G>C | |
| NM_000181.3:c.-19G>C | NP_000172.2:n.-19G>C | |
| NM_001284290.1:c.-19G>C | NP_001271219.1:n.-19G>C | |
| NM_001293104.1:c.-404G>C | NP_001280033.1:n.-404G>C | |
| NM_001293105.1:c.-348G>C | NP_001280034.1:n.-348G>C | |
| NR_120531.1:n.113G>C | ||
| XM_005250297.3:c.-19G>C | XP_005250354.1:n.-19G>C | |
| XM_011516113.1:c.-348G>C | XP_011514415.1:n.-348G>C | |
| XR_927461.1:n.108G>C | ||
| XM_005250297.4:c.-19G>C | XP_005250354.1:n.-19G>C | |
| XM_017012091.1:c.-348G>C | XP_016867580.1:n.-348G>C | |
| XM_017012092.1:c.-404G>C | XP_016867581.1:n.-404G>C | |
| XR_001744658.2:n.27G>C | ||
| XR_001744659.2:n.27G>C | ||
| XR_001744660.2:n.27G>C | ||
| XR_001744661.2:n.27G>C | ||
| XR_927461.3:n.27G>C | ||
| NM_000181.4:c.-19G>C MANE Select | NP_000172.2:n.-19G>C | |
| NM_001284290.2:c.-19G>C | NP_001271219.1:n.-19G>C | |
| NM_001293104.2:c.-404G>C | NP_001280033.1:n.-404G>C | |
| NM_001293105.2:c.-348G>C | NP_001280034.1:n.-348G>C | |
| NR_120531.2:n.12G>C |