Linked Data
ClinVar Variation Id:
382232
dbSNP Id:
rs1026361359
gnomAD v2:
14-77762606-G-A
gnomAD v3:
14-77296263-G-A
gnomAD v4:
14-77296263-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77296263G>A , CM000676.2:g.77296263G>A | GRCh38 |
| NC_000014.8:g.77762606G>A , CM000676.1:g.77762606G>A | GRCh37 |
| NC_000014.7:g.76832359G>A | NCBI36 |
| NG_008897.1:g.29620C>T , LRG_844:g.29620C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556394.2:c.558C>T | ENSP00000451967.2:p.Tyr186= | |
| ENST00000557289.2:c.315C>T | ||
| ENST00000682247.1:c.1017C>T | ENSP00000507213.1:p.Tyr339= | |
| ENST00000682382.1:c.589C>T | ||
| ENST00000682395.1:n.746C>T | ||
| ENST00000682459.1:n.681C>T | ||
| ENST00000682467.1:c.1017C>T | ENSP00000508062.1:p.Tyr339= | |
| ENST00000682795.1:c.1017C>T | ENSP00000507574.1:p.Tyr339= | |
| ENST00000682895.1:n.733C>T | ||
| ENST00000682955.1:n.305C>T | ||
| ENST00000683188.1:c.543C>T | ||
| ENST00000683285.1:c.11C>T | ||
| ENST00000683300.1:c.120C>T | ENSP00000507630.1:p.Tyr40= | |
| ENST00000683328.1:c.110-4883C>T | ENSP00000508096.1:n.110-4883C>T | |
| ENST00000683380.1:n.681C>T | ||
| ENST00000683721.1:n.41C>T | ||
| ENST00000683828.1:c.726C>T | ||
| ENST00000684259.1:n.868C>T | ||
| ENST00000684528.1:c.11C>T | ||
| ENST00000684549.1:n.568C>T | ||
| ENST00000684554.1:c.254C>T | ||
| ENST00000261534.9:c.1017C>T MANE Select | ENSP00000261534.4:p.Tyr339= | |
| ENST00000261534.8:c.1017C>T | ENSP00000261534.4:p.Tyr339= | |
| ENST00000452340.7:n.1040C>T | ||
| ENST00000554767.5:n.1803C>T | ||
| ENST00000557289.1:c.256C>T | ENSP00000451115.1:n.256C>T | |
| ENST00000557675.5:n.107C>T | ||
| NM_013382.5:c.1017C>T , LRG_844t1:c.1017C>T | NP_037514.2:p.Tyr339= | |
| XM_011536675.1:c.1017C>T | XP_011534977.1:p.Tyr339= | |
| XM_011536676.1:c.684C>T | XP_011534978.1:p.Tyr228= | |
| XM_011536677.1:c.558C>T | XP_011534979.1:p.Tyr186= | |
| XM_011536678.1:c.1017C>T | XP_011534980.1:p.Tyr339= | |
| XM_011536679.1:c.111C>T | XP_011534981.1:p.Tyr37= | |
| XM_011536680.1:c.1017C>T | XP_011534982.1:p.Tyr339= | |
| XR_943416.1:n.1220C>T | ||
| XM_011536675.2:c.1017C>T | XP_011534977.1:p.Tyr339= | |
| XM_011536676.2:c.684C>T | XP_011534978.1:p.Tyr228= | |
| XM_011536677.3:c.558C>T | XP_011534979.1:p.Tyr186= | |
| XR_001750279.1:n.1217C>T | ||
| XR_001750282.1:n.1221C>T | ||
| XR_943416.3:n.1218C>T | ||
| NM_013382.6:c.1017C>T | NP_037514.2:p.Tyr339= | |
| NM_013382.7:c.1017C>T MANE Select | NP_037514.2:p.Tyr339= |