Linked Data
dbSNP Id:
rs201180487
ExAC:
22:23915440 C / A
gnomAD v2:
22-23915440-C-A
gnomAD v4:
22-23573253-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.23573253C>A , CM000684.2:g.23573253C>A | GRCh38 |
| NC_000022.10:g.23915440C>A , CM000684.1:g.23915440C>A | GRCh37 |
| NC_000022.9:g.22245440C>A | NCBI36 |
| NG_009791.1:g.12056G>T , LRG_69:g.12056G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330377.3:c.*13G>T MANE Select | ENSP00000329312.2:n.*13G>T | |
| ENST00000249053.3:c.*284G>T | ENSP00000249053.3:n.*284G>T | |
| ENST00000330377.2:c.*13G>T | ENSP00000329312.2:n.*13G>T | |
| NM_020070.3:c.*13G>T | NP_064455.1:n.*13G>T | |
| NM_152855.2:c.*284G>T | NP_690594.1:n.*284G>T | |
| XM_011530169.1:c.*13G>T | XP_011528471.1:n.*13G>T | |
| XM_011530169.2:c.*13G>T | XP_011528471.1:n.*13G>T | |
| NM_020070.4:c.*13G>T MANE Select | NP_064455.1:n.*13G>T | |
| NM_001369906.1:c.*13G>T | NP_001356835.1:n.*13G>T | |
| NM_152855.3:c.*284G>T | NP_690594.1:n.*284G>T |