Linked Data
ClinVar Variation Id:
6802
ClinVar RCV Id:
RCV000007204
dbSNP Id:
rs121909763
gnomAD v4:
5-90985501-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90985501A>G , CM000667.2:g.90985501A>G | GRCh38 |
| NC_000005.9:g.90281318A>G , CM000667.1:g.90281318A>G | GRCh37 |
| NC_000005.8:g.90317074A>G | NCBI36 |
| NG_007083.1:g.431702A>G | |
| NG_007083.2:g.461158A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.18131A>G MANE Select | ENSP00000384582.2:p.Tyr6044Cys | |
| ENST00000425867.3:c.7085A>G | ENSP00000392618.3:p.Tyr2362Cys | |
| ENST00000638510.1:n.5398A>G | ||
| ENST00000638990.1:c.1343A>G | ||
| ENST00000639431.1:c.423A>G | ENSP00000491057.1:n.423A>G | |
| ENST00000639707.1:c.215A>G | ENSP00000492328.1:p.Tyr72Cys | |
| ENST00000639821.1:c.215A>G | ENSP00000492216.1:p.Tyr72Cys | |
| ENST00000640369.1:c.215A>G | ENSP00000491401.1:p.Tyr72Cys | |
| ENST00000640407.1:c.4580A>G | ENSP00000491425.1:n.4580A>G | |
| ENST00000640815.1:c.215A>G | ENSP00000491767.1:p.Tyr72Cys | |
| ENST00000405460.6:c.18131A>G | ENSP00000384582.2:p.Tyr6044Cys | |
| ENST00000425867.2:c.5114A>G | ENSP00000392618.2:p.Tyr1705Cys | |
| NM_032119.3:c.18131A>G | NP_115495.3:p.Tyr6044Cys | |
| NR_003149.1:n.18144A>G | ||
| XM_011543675.1:c.18128A>G | XP_011541977.1:p.Tyr6043Cys | |
| XM_011543676.1:c.18050A>G | XP_011541978.1:p.Tyr6017Cys | |
| XM_011543677.1:c.15434A>G | XP_011541979.1:p.Tyr5145Cys | |
| NM_032119.4:c.18131A>G MANE Select | NP_115495.3:p.Tyr6044Cys | |
| XM_017009963.2:c.18152A>G | XP_016865452.1:p.Tyr6051Cys | |
| XM_017009964.2:c.18149A>G | XP_016865453.1:p.Tyr6050Cys | |
| XM_017009965.1:c.18149A>G | XP_016865454.1:p.Tyr6050Cys | |
| XM_017009966.2:c.18071A>G | XP_016865455.1:p.Tyr6024Cys | |
| XM_017009967.1:c.18056A>G | XP_016865456.1:p.Tyr6019Cys | |
| XM_017009968.2:c.17972A>G | XP_016865457.1:p.Tyr5991Cys | |
| XM_017009969.2:c.18152A>G | XP_016865458.1:p.Tyr6051Cys | |
| XM_017009972.1:c.11270A>G | XP_016865461.1:p.Tyr3757Cys | |
| XM_017009973.1:c.11249A>G | XP_016865462.1:p.Tyr3750Cys | |
| NR_003149.2:n.18147A>G |