Linked Data
ClinVar Variation Id:
2606080
ClinVar RCV Id:
RCV004344694
dbSNP Id:
rs1181939895
gnomAD v2:
11-113803049-A-G
gnomAD v3:
11-113932327-A-G
gnomAD v4:
11-113932327-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.113932327A>G , CM000673.2:g.113932327A>G | GRCh38 |
| NC_000011.9:g.113803049A>G , CM000673.1:g.113803049A>G | GRCh37 |
| NC_000011.8:g.113308259A>G | NCBI36 |
| NG_011483.1:g.32461A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260191.8:c.407A>G MANE Select | ENSP00000260191.2:p.Tyr136Cys | |
| ENST00000260191.7:c.407A>G | ENSP00000260191.2:p.Tyr136Cys | |
| ENST00000260191.6:c.407A>G | ENSP00000260191.2:p.Tyr136Cys | |
| ENST00000537778.5:c.374A>G | ENSP00000443118.1:p.Tyr125Cys | |
| ENST00000543092.1:c.193A>G | ||
| NM_006028.4:c.407A>G | NP_006019.1:p.Tyr136Cys | |
| XM_011543063.1:c.374A>G | XP_011541365.1:p.Tyr125Cys | |
| XM_011543064.1:c.206A>G | XP_011541366.1:p.Tyr69Cys | |
| XM_011543065.1:c.200A>G | XP_011541367.1:p.Tyr67Cys | |
| XM_011543066.1:c.374A>G | XP_011541368.1:p.Tyr125Cys | |
| NM_001363563.1:c.374A>G | NP_001350492.1:p.Tyr125Cys | |
| XM_017018552.2:c.200A>G | XP_016874041.1:p.Tyr67Cys | |
| XM_024448767.1:c.113A>G | XP_024304535.1:p.Tyr38Cys | |
| XR_001748034.2:n.658A>G | ||
| NM_001363563.2:c.374A>G | NP_001350492.1:p.Tyr125Cys | |
| NM_006028.5:c.407A>G MANE Select | NP_006019.1:p.Tyr136Cys |