Linked Data
ClinVar Variation Id:
1046319
ClinVar RCV Id:
RCV001350864
dbSNP Id:
rs370857205
ExAC:
3:46902246 C / T
gnomAD v2:
3-46902246-C-T
gnomAD v4:
3-46860756-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.46860756C>T , CM000665.2:g.46860756C>T | GRCh38 |
| NC_000003.11:g.46902246C>T , CM000665.1:g.46902246C>T | GRCh37 |
| NC_000003.10:g.46877250C>T | NCBI36 |
| NG_007555.2:g.26414G>A , LRG_395:g.26414G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000431168.2:c.227G>A | ENSP00000393455.2:p.Cys76Tyr | |
| ENST00000292327.6:c.227G>A MANE Select | ENSP00000292327.4:p.Cys76Tyr | |
| ENST00000653454.1:c.227G>A | ENSP00000499624.1:p.Cys76Tyr | |
| ENST00000654597.1:c.227G>A | ENSP00000499406.1:p.Cys76Tyr | |
| ENST00000655244.1:n.449G>A | ||
| ENST00000662933.1:c.227G>A | ENSP00000499577.1:p.Cys76Tyr | |
| ENST00000664891.1:n.185G>A | ||
| ENST00000292327.4:c.227G>A | ENSP00000292327.4:p.Cys76Tyr | |
| ENST00000395869.5:c.227G>A | ENSP00000379210.1:p.Cys76Tyr | |
| NM_000258.2:c.227G>A , LRG_395t1:c.227G>A | NP_000249.1:p.Cys76Tyr | |
| NM_000258.3:c.227G>A MANE Select | NP_000249.1:p.Cys76Tyr |