Linked Data
dbSNP Id:
rs775179800
ExAC:
22:23915460 C / A
gnomAD v2:
22-23915460-C-A
gnomAD v3:
22-23573273-C-A
gnomAD v4:
22-23573273-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.23573273C>A , CM000684.2:g.23573273C>A | GRCh38 |
| NC_000022.10:g.23915460C>A , CM000684.1:g.23915460C>A | GRCh37 |
| NC_000022.9:g.22245460C>A | NCBI36 |
| NG_009791.1:g.12036G>T , LRG_69:g.12036G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330377.3:c.635G>T MANE Select | ENSP00000329312.2:p.Cys212Phe | |
| ENST00000249053.3:c.*264G>T | ENSP00000249053.3:n.*264G>T | |
| ENST00000330377.2:c.635G>T | ENSP00000329312.2:p.Cys212Phe | |
| NM_020070.3:c.635G>T | NP_064455.1:p.Cys212Phe | |
| NM_152855.2:c.*264G>T | NP_690594.1:n.*264G>T | |
| XM_011530169.1:c.638G>T | XP_011528471.1:p.Cys213Phe | |
| XM_011530169.2:c.638G>T | XP_011528471.1:p.Cys213Phe | |
| NM_020070.4:c.635G>T MANE Select | NP_064455.1:p.Cys212Phe | |
| NM_001369906.1:c.638G>T | NP_001356835.1:p.Cys213Phe | |
| NM_152855.3:c.*264G>T | NP_690594.1:n.*264G>T |