Linked Data
dbSNP Id:
rs554983212
ExAC:
22:20127078 C / T
gnomAD v2:
22-20127078-C-T
gnomAD v3:
22-20139555-C-T
gnomAD v4:
22-20139555-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.20139555C>T , CM000684.2:g.20139555C>T | GRCh38 |
| NC_000022.10:g.20127078C>T , CM000684.1:g.20127078C>T | GRCh37 |
| NC_000022.9:g.18507078C>T | NCBI36 |
| NG_021420.1:g.12715C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334554.12:c.304C>T MANE Select | ENSP00000334490.7:p.Arg102Cys | |
| ENST00000320602.11:c.304C>T | ENSP00000317804.7:p.Arg102Cys | |
| ENST00000334554.11:c.304C>T | ENSP00000334490.7:p.Arg102Cys | |
| ENST00000405930.3:c.304C>T | ENSP00000384716.3:p.Arg102Cys | |
| ENST00000436518.5:c.271C>T | ENSP00000412807.1:p.Arg91Cys | |
| ENST00000468112.5:n.58-1062C>T | ||
| NM_001185024.1:c.304C>T | NP_001171953.1:p.Arg102Cys | |
| NM_013373.3:c.304C>T | NP_037505.1:p.Arg102Cys | |
| XM_006724239.2:c.304C>T | XP_006724302.1:p.Arg102Cys | |
| NM_001185024.2:c.304C>T | NP_001171953.1:p.Arg102Cys | |
| NM_013373.4:c.304C>T MANE Select | NP_037505.1:p.Arg102Cys |