Linked Data
ClinVar Variation Id:
130017
dbSNP Id:
rs587780423
gnomAD v3:
14-77299497-T-C
gnomAD v4:
14-77299497-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77299497T>C , CM000676.2:g.77299497T>C | GRCh38 |
| NC_000014.8:g.77765840T>C , CM000676.1:g.77765840T>C | GRCh37 |
| NC_000014.7:g.76835593T>C | NCBI36 |
| NG_008897.1:g.26386A>G , LRG_844:g.26386A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553863.6:c.334A>G | ENSP00000508202.1:n.334A>G | |
| ENST00000556394.2:c.422A>G | ENSP00000451967.2:p.Tyr141Cys | |
| ENST00000557289.2:c.179A>G | ||
| ENST00000682247.1:c.881A>G | ENSP00000507213.1:p.Tyr294Cys | |
| ENST00000682382.1:c.496-726A>G | ||
| ENST00000682395.1:n.610A>G | ||
| ENST00000682459.1:n.545A>G | ||
| ENST00000682467.1:c.881A>G | ENSP00000508062.1:p.Tyr294Cys | |
| ENST00000682795.1:c.881A>G | ENSP00000507574.1:p.Tyr294Cys | |
| ENST00000682895.1:n.597A>G | ||
| ENST00000682955.1:n.212-726A>G | ||
| ENST00000683167.1:c.261A>G | ||
| ENST00000683188.1:c.407A>G | ||
| ENST00000683300.1:c.110-3224A>G | ENSP00000507630.1:n.110-3224A>G | |
| ENST00000683328.1:c.109+5195A>G | ENSP00000508096.1:n.109+5195A>G | |
| ENST00000683380.1:n.545A>G | ||
| ENST00000683398.1:c.255A>G | ||
| ENST00000683551.1:c.110-726A>G | ||
| ENST00000683828.1:c.590A>G | ||
| ENST00000684259.1:n.732A>G | ||
| ENST00000684549.1:n.432A>G | ||
| ENST00000684554.1:c.161-726A>G | ||
| ENST00000261534.9:c.881A>G MANE Select | ENSP00000261534.4:p.Tyr294Cys | |
| ENST00000261534.8:c.881A>G | ENSP00000261534.4:p.Tyr294Cys | |
| ENST00000452340.7:n.904A>G | ||
| ENST00000553863.5:n.545A>G | ||
| ENST00000554767.5:n.1667A>G | ||
| ENST00000557289.1:c.120A>G | ENSP00000451115.1:p.Leu40= | |
| NM_013382.5:c.881A>G , LRG_844t1:c.881A>G | NP_037514.2:p.Tyr294Cys | |
| XM_011536675.1:c.881A>G | XP_011534977.1:p.Tyr294Cys | |
| XM_011536676.1:c.548A>G | XP_011534978.1:p.Tyr183Cys | |
| XM_011536677.1:c.548-3224A>G | XP_011534979.1:n.548-3224A>G | |
| XM_011536678.1:c.881A>G | XP_011534980.1:p.Tyr294Cys | |
| XM_011536679.1:c.-26A>G | XP_011534981.1:n.-26A>G | |
| XM_011536680.1:c.881A>G | XP_011534982.1:p.Tyr294Cys | |
| XR_943416.1:n.1084A>G | ||
| XM_011536675.2:c.881A>G | XP_011534977.1:p.Tyr294Cys | |
| XM_011536676.2:c.548A>G | XP_011534978.1:p.Tyr183Cys | |
| XM_011536677.3:c.548-3224A>G | XP_011534979.1:n.548-3224A>G | |
| XR_001750279.1:n.1081A>G | ||
| XR_001750282.1:n.1085A>G | ||
| XR_943416.3:n.1082A>G | ||
| NM_013382.6:c.881A>G | NP_037514.2:p.Tyr294Cys | |
| NM_013382.7:c.881A>G MANE Select | NP_037514.2:p.Tyr294Cys |