Linked Data
ClinVar Variation Id:
5690
ClinVar RCV Id:
RCV000006044
dbSNP Id:
rs267607221
gnomAD v2:
11-46921006-C-T
gnomAD v3:
11-46899455-C-T
gnomAD v4:
11-46899455-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46899455C>T , CM000673.2:g.46899455C>T | GRCh38 |
| NC_000011.9:g.46921006C>T , CM000673.1:g.46921006C>T | GRCh37 |
| NC_000011.8:g.46877582C>T | NCBI36 |
| NG_021394.1:g.24168G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378623.6:c.479G>A MANE Select | ENSP00000367888.1:p.Cys160Tyr | |
| ENST00000378623.5:c.479G>A | ENSP00000367888.1:p.Cys160Tyr | |
| ENST00000534404.1:c.332G>A | ENSP00000434763.1:p.Cys111Tyr | |
| NM_002334.3:c.479G>A | NP_002325.2:p.Cys160Tyr | |
| XM_011520102.1:c.692G>A | XP_011518404.1:p.Cys231Tyr | |
| XM_017017734.1:c.479G>A | XP_016873223.1:p.Cys160Tyr | |
| NM_002334.4:c.479G>A MANE Select | NP_002325.2:p.Cys160Tyr |