Linked Data
ClinVar Variation Id:
410947
dbSNP Id:
rs367578442
ExAC:
13:49030386 C / T
gnomAD v2:
13-49030386-C-T
gnomAD v3:
13-48456250-C-T
gnomAD v4:
13-48456250-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48456250C>T , CM000675.2:g.48456250C>T | GRCh38 |
| NC_000013.10:g.49030386C>T , CM000675.1:g.49030386C>T | GRCh37 |
| NC_000013.9:g.47928387C>T | NCBI36 |
| NG_009009.1:g.157504C>T , LRG_517:g.157504C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.1861C>T MANE Select | ENSP00000267163.4:p.Arg621Cys | |
| ENST00000643064.1:c.194+74807C>T | ||
| ENST00000650461.1:c.1861C>T | ENSP00000497193.1:p.Arg621Cys | |
| ENST00000267163.4:c.1861C>T | ENSP00000267163.4:p.Arg621Cys | |
| ENST00000480491.1:n.560C>T | ||
| NM_000321.2:c.1861C>T , LRG_517t1:c.1861C>T | NP_000312.2:p.Arg621Cys | |
| XM_011535171.1:c.1600C>T | XP_011533473.1:p.Arg534Cys | |
| XM_011535171.2:c.1600C>T | XP_011533473.1:p.Arg534Cys | |
| NM_000321.3:c.1861C>T MANE Select | NP_000312.2:p.Arg621Cys |