Linked Data
ClinVar Variation Id:
341475
dbSNP Id:
rs136200
gnomAD v2:
22-36678118-C-T
gnomAD v3:
22-36282072-C-T
gnomAD v4:
22-36282072-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36282072C>T , CM000684.2:g.36282072C>T | GRCh38 |
| NC_000022.10:g.36678118C>T , CM000684.1:g.36678118C>T | GRCh37 |
| NC_000022.9:g.35008064C>T | NCBI36 |
| NG_011884.2:g.110947G>A , LRG_567:g.110947G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685708.1:n.2912G>A | ||
| ENST00000685801.1:c.*596G>A | ENSP00000510688.1:n.*596G>A | |
| ENST00000690244.1:n.1815G>A | ||
| ENST00000691109.1:n.6774G>A | ||
| ENST00000216181.11:c.*596G>A MANE Select | ENSP00000216181.6:n.*596G>A | |
| ENST00000216181.9:c.*596G>A | ENSP00000216181.5:n.*596G>A | |
| NM_002473.5:c.*596G>A , LRG_567t1:c.*596G>A | NP_002464.1:n.*596G>A | |
| XM_011530197.1:c.*596G>A | XP_011528499.1:n.*596G>A | |
| XM_011530197.2:c.*596G>A | XP_011528499.1:n.*596G>A | |
| XM_017028803.1:c.*596G>A | XP_016884292.1:n.*596G>A | |
| XM_017028804.1:c.*596G>A | XP_016884293.1:n.*596G>A | |
| XM_017028805.1:c.*596G>A | XP_016884294.1:n.*596G>A | |
| XM_017028806.1:c.*596G>A | XP_016884295.1:n.*596G>A | |
| NM_002473.6:c.*596G>A MANE Select | NP_002464.1:n.*596G>A |