Linked Data
ClinVar Variation Id:
287196
dbSNP Id:
rs34081806
ExAC:
1:220326552 T / C
gnomAD v2:
1-220326552-T-C
gnomAD v3:
1-220153210-T-C
gnomAD v4:
1-220153210-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.220153210T>C , CM000663.2:g.220153210T>C | GRCh38 |
| NC_000001.10:g.220326552T>C , CM000663.1:g.220326552T>C | GRCh37 |
| NC_000001.9:g.218393175T>C | NCBI36 |
| NG_015837.1:g.124292A>G | |
| NG_015837.2:g.124292A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474966.2:n.1834A>G | ||
| ENST00000491005.6:n.4868A>G | ||
| ENST00000491305.2:n.4337A>G | ||
| ENST00000685286.1:c.*1167A>G | ENSP00000509457.1:n.*1167A>G | |
| ENST00000685664.1:c.3842A>G | ENSP00000509121.1:p.Tyr1281Cys | |
| ENST00000686381.1:c.3578A>G | ENSP00000509555.1:p.Tyr1193Cys | |
| ENST00000687065.1:c.3578A>G | ENSP00000510408.1:p.Tyr1193Cys | |
| ENST00000687394.1:n.3948A>G | ||
| ENST00000687647.1:c.3578A>G | ENSP00000509205.1:p.Tyr1193Cys | |
| ENST00000688035.1:n.6852A>G | ||
| ENST00000690315.1:c.3743A>G | ENSP00000509834.1:p.Tyr1248Cys | |
| ENST00000690373.1:n.4181A>G | ||
| ENST00000690824.1:c.3792+50A>G | ENSP00000510709.1:n.3792+50A>G | |
| ENST00000691661.1:c.3854A>G | ENSP00000510185.1:p.Tyr1285Cys | |
| ENST00000691862.1:c.3740A>G | ENSP00000509291.1:p.Tyr1247Cys | |
| ENST00000692813.1:c.3806A>G | ENSP00000509080.1:p.Tyr1269Cys | |
| ENST00000692972.1:c.3917A>G | ENSP00000510753.1:p.Tyr1306Cys | |
| ENST00000693602.1:n.6428A>G | ||
| ENST00000358951.7:c.3842A>G MANE Select | ENSP00000351832.2:p.Tyr1281Cys | |
| ENST00000358951.6:c.3842A>G | ENSP00000351832.2:p.Tyr1281Cys | |
| ENST00000474966.1:n.513A>G | ||
| ENST00000491005.5:n.290A>G | ||
| ENST00000491305.1:n.658A>G | ||
| NM_012414.3:c.3842A>G | NP_036546.2:p.Tyr1281Cys | |
| NM_012414.4:c.3842A>G MANE Select | NP_036546.2:p.Tyr1281Cys |