Linked Data
dbSNP Id:
rs368536447
gnomAD v2:
22-36677960-C-A
gnomAD v3:
22-36281914-C-A
gnomAD v4:
22-36281914-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36281914C>A , CM000684.2:g.36281914C>A | GRCh38 |
| NC_000022.10:g.36677960C>A , CM000684.1:g.36677960C>A | GRCh37 |
| NC_000022.9:g.35007906C>A | NCBI36 |
| NG_011884.2:g.111105G>T , LRG_567:g.111105G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685708.1:n.3070G>T | ||
| ENST00000685801.1:c.*754G>T | ENSP00000510688.1:n.*754G>T | |
| ENST00000690244.1:n.1973G>T | ||
| ENST00000691109.1:n.6932G>T | ||
| ENST00000216181.11:c.*754G>T MANE Select | ENSP00000216181.6:n.*754G>T | |
| ENST00000216181.9:c.*754G>T | ENSP00000216181.5:n.*754G>T | |
| NM_002473.5:c.*754G>T , LRG_567t1:c.*754G>T | NP_002464.1:n.*754G>T | |
| XM_011530197.1:c.*754G>T | XP_011528499.1:n.*754G>T | |
| XM_011530197.2:c.*754G>T | XP_011528499.1:n.*754G>T | |
| XM_017028803.1:c.*754G>T | XP_016884292.1:n.*754G>T | |
| XM_017028804.1:c.*754G>T | XP_016884293.1:n.*754G>T | |
| XM_017028805.1:c.*754G>T | XP_016884294.1:n.*754G>T | |
| XM_017028806.1:c.*754G>T | XP_016884295.1:n.*754G>T | |
| NM_002473.6:c.*754G>T MANE Select | NP_002464.1:n.*754G>T |