Linked Data
ClinVar Variation Id:
9166
dbSNP Id:
rs104893922
gnomAD v4:
5-70946157-A-G
PubMed:
PMID:7813012
PMID:9590291
PMID:10205265
PMID:10500148
PMID:10556301
PMID:10732817
PMID:11078511
PMID:11572858
PMID:12374765
PMID:14715275
PMID:14749338
PMID:15580564
PMID:15975577
PMID:17049859
PMID:17635841
PMID:21584334
PMID:23615451
PMID:25144193
PMID:25844556
PMID:26509018
PMID:26606804
PMID:27425821
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.70946157A>G , CM000667.2:g.70946157A>G | GRCh38 |
| NC_000005.9:g.70241984A>G , CM000667.1:g.70241984A>G | GRCh37 |
| NC_000005.8:g.70277740A>G | NCBI36 |
| NG_008691.1:g.26217A>G , LRG_676:g.26217A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380707.9:c.815A>G MANE Select | ENSP00000370083.4:p.Tyr272Cys | |
| ENST00000351205.8:c.815A>G | ENSP00000305857.5:p.Tyr272Cys | |
| ENST00000380707.8:c.815A>G | ENSP00000370083.4:p.Tyr272Cys | |
| ENST00000503079.6:c.719A>G | ENSP00000428128.1:p.Tyr240Cys | |
| ENST00000506163.5:c.815A>G | ENSP00000424926.1:p.Tyr272Cys | |
| ENST00000506239.6:c.815A>G | ENSP00000422679.2:p.Tyr272Cys | |
| ENST00000510679.1:n.69A>G | ||
| ENST00000513228.1:n.382A>G | ||
| ENST00000514951.5:c.614A>G | ENSP00000423298.1:p.Tyr205Cys | |
| ENST00000518504.5:n.332A>G | ||
| ENST00000625245.2:c.815A>G | ENSP00000486539.1:p.Tyr272Cys | |
| NM_000344.3:c.815A>G , LRG_676t1:c.815A>G | NP_000335.1:p.Tyr272Cys | |
| NM_001297715.1:c.815A>G | NP_001284644.1:p.Tyr272Cys | |
| NM_022874.2:c.719A>G | NP_075012.1:p.Tyr240Cys | |
| XM_011543596.1:c.815A>G | XP_011541898.1:p.Tyr272Cys | |
| XM_011543597.1:c.614A>G | XP_011541899.1:p.Tyr205Cys | |
| XM_011543598.1:c.518A>G | XP_011541900.1:p.Tyr173Cys | |
| XM_011543598.3:c.518A>G | XP_011541900.1:p.Tyr173Cys | |
| XM_017009786.1:c.719A>G | XP_016865275.1:p.Tyr240Cys | |
| NM_000344.4:c.815A>G MANE Select | NP_000335.1:p.Tyr272Cys |