Linked Data
ClinVar Variation Id:
654863
dbSNP Id:
rs905391308
gnomAD v2:
22-19906419-T-C
gnomAD v3:
22-19918896-T-C
gnomAD v4:
22-19918896-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.19918896T>C , CM000684.2:g.19918896T>C | GRCh38 |
| NC_000022.10:g.19906419T>C , CM000684.1:g.19906419T>C | GRCh37 |
| NC_000022.9:g.18286419T>C | NCBI36 |
| NG_011835.1:g.27941A>G , LRG_417:g.27941A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400521.7:c.338A>G MANE Select | ENSP00000383365.1:p.Tyr113Cys | |
| ENST00000334363.14:c.338A>G | ENSP00000334451.9:p.Tyr113Cys | |
| ENST00000400518.5:c.248A>G | ENSP00000383362.1:p.Tyr83Cys | |
| ENST00000400519.6:c.335A>G | ENSP00000383363.1:p.Tyr112Cys | |
| ENST00000400521.6:c.338A>G | ENSP00000383365.1:p.Tyr113Cys | |
| ENST00000400525.6:c.269A>G | ENSP00000383369.3:p.Tyr90Cys | |
| ENST00000474308.5:c.281A>G | ENSP00000485665.1:p.Tyr94Cys | |
| ENST00000491939.6:c.242A>G | ENSP00000485543.1:p.Tyr81Cys | |
| ENST00000496729.2:n.343A>G | ||
| ENST00000542719.6:c.50A>G | ENSP00000485128.2:p.Tyr17Cys | |
| NM_001282512.1:c.338A>G | NP_001269441.1:p.Tyr113Cys | |
| NM_006440.4:c.338A>G | NP_006431.2:p.Tyr113Cys | |
| NM_001282512.2:c.338A>G | NP_001269441.1:p.Tyr113Cys | |
| NM_001352300.1:c.335A>G | NP_001339229.1:p.Tyr112Cys | |
| NM_001352301.1:c.248A>G | NP_001339230.1:p.Tyr83Cys | |
| NM_001352302.1:c.50A>G | NP_001339231.1:p.Tyr17Cys | |
| NM_001352303.1:c.242A>G | NP_001339232.1:p.Tyr81Cys | |
| NR_147957.1:n.470A>G | ||
| NM_006440.5:c.338A>G MANE Select | NP_006431.2:p.Tyr113Cys | |
| NM_001282512.3:c.338A>G | NP_001269441.1:p.Tyr113Cys | |
| NM_001352300.2:c.335A>G | NP_001339229.1:p.Tyr112Cys | |
| NR_147957.2:n.296A>G | ||
| NM_001352301.2:c.248A>G | NP_001339230.1:p.Tyr83Cys | |
| NM_001352302.2:c.50A>G | NP_001339231.1:p.Tyr17Cys | |
| NM_001352303.2:c.242A>G | NP_001339232.1:p.Tyr81Cys |