Linked Data
ClinVar Variation Id:
1695
ClinVar RCV Id:
RCV000001763
dbSNP Id:
rs104893975
ExAC:
6:35773827 A / G
gnomAD v2:
6-35773827-A-G
gnomAD v3:
6-35806050-A-G
gnomAD v4:
6-35806050-A-G
PubMed:
PMID:16459341
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.35806050A>G , CM000668.2:g.35806050A>G | GRCh38 |
| NC_000006.11:g.35773827A>G , CM000668.1:g.35773827A>G | GRCh37 |
| NC_000006.10:g.35881805A>G | NCBI36 |
| NG_012184.1:g.5757A>G | |
| NG_012184.2:g.5757A>G | |
| NG_012184.3:g.13845A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000360215.3:c.380A>G MANE Select | ENSP00000353346.1:p.Tyr127Cys | |
| ENST00000651132.1:c.380A>G | ENSP00000498322.1:p.Tyr127Cys | |
| ENST00000651676.1:c.380A>G | ENSP00000498699.1:p.Tyr127Cys | |
| ENST00000651994.1:c.380A>G | ENSP00000498310.1:p.Tyr127Cys | |
| ENST00000652718.1:c.212A>G | ENSP00000498866.1:p.Tyr71Cys | |
| ENST00000360215.2:c.380A>G | ENSP00000353346.1:p.Tyr127Cys | |
| NM_182548.3:c.380A>G | NP_872354.1:p.Tyr127Cys | |
| XM_011514403.1:c.380A>G | XP_011512705.1:p.Tyr127Cys | |
| NM_182548.4:c.380A>G MANE Select | NP_872354.1:p.Tyr127Cys |