Linked Data
ClinVar Variation Id:
2202175
ClinVar RCV Id:
RCV002629911
dbSNP Id:
rs758090531
gnomAD v2:
2-44145265-T-C
gnomAD v4:
2-43918126-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43918126T>C , CM000664.2:g.43918126T>C | GRCh38 |
| NC_000002.11:g.44145265T>C , CM000664.1:g.44145265T>C | GRCh37 |
| NC_000002.10:g.43998769T>C | NCBI36 |
| NG_008247.1:g.82880A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681993.1:n.599A>G | ||
| ENST00000682295.1:c.303+130A>G | ENSP00000507499.1:n.303+130A>G | |
| ENST00000682303.1:c.*2833A>G | ENSP00000508325.1:n.*2833A>G | |
| ENST00000682308.1:c.3047A>G | ENSP00000507056.1:p.Tyr1016Cys | |
| ENST00000682480.1:c.3065A>G | ENSP00000508344.1:p.Tyr1022Cys | |
| ENST00000682546.1:c.3044A>G | ENSP00000508188.1:p.Tyr1015Cys | |
| ENST00000682585.1:c.3047A>G | ENSP00000506885.1:p.Tyr1016Cys | |
| ENST00000682595.1:n.3631A>G | ||
| ENST00000682607.1:c.1465A>G | ||
| ENST00000682779.1:c.3038A>G | ENSP00000507947.1:p.Tyr1013Cys | |
| ENST00000682845.1:n.2149A>G | ||
| ENST00000682885.1:c.3002A>G | ENSP00000508036.1:p.Tyr1001Cys | |
| ENST00000682933.1:n.3121A>G | ||
| ENST00000683072.1:n.3631A>G | ||
| ENST00000683080.1:n.666A>G | ||
| ENST00000683125.1:c.3155A>G | ENSP00000507939.1:p.Tyr1052Cys | |
| ENST00000683213.1:c.3050A>G | ENSP00000507751.1:p.Tyr1017Cys | |
| ENST00000683220.1:c.3077A>G | ENSP00000507151.1:p.Tyr1026Cys | |
| ENST00000683329.1:n.3850A>G | ||
| ENST00000683346.1:c.*2922A>G | ENSP00000507458.1:n.*2922A>G | |
| ENST00000683409.1:n.1654A>G | ||
| ENST00000683459.1:n.3634A>G | ||
| ENST00000683590.1:c.2897-5568A>G | ENSP00000506820.1:n.2897-5568A>G | |
| ENST00000683623.1:c.2954A>G | ENSP00000507702.1:p.Tyr985Cys | |
| ENST00000683645.1:n.3598A>G | ||
| ENST00000683796.1:c.*2919A>G | ENSP00000508221.1:n.*2919A>G | |
| ENST00000683802.1:n.5972A>G | ||
| ENST00000683833.1:c.3038A>G | ENSP00000506852.1:p.Tyr1013Cys | |
| ENST00000683994.1:c.3047A>G | ENSP00000507181.1:p.Tyr1016Cys | |
| ENST00000684290.1:c.*583A>G | ENSP00000507243.1:n.*583A>G | |
| ENST00000684306.1:c.*2960A>G | ENSP00000508384.1:n.*2960A>G | |
| ENST00000684341.1:n.3067A>G | ||
| ENST00000684383.1:c.*2685A>G | ENSP00000506863.1:n.*2685A>G | |
| ENST00000684619.1:c.*2919A>G | ENSP00000508088.1:n.*2919A>G | |
| ENST00000684705.1:n.168A>G | ||
| ENST00000684743.1:n.4078A>G | ||
| ENST00000260665.12:c.3047A>G MANE Select | ENSP00000260665.7:p.Tyr1016Cys | |
| ENST00000260665.11:c.3047A>G | ENSP00000260665.7:p.Tyr1016Cys | |
| NM_133259.3:c.3047A>G | NP_573566.2:p.Tyr1016Cys | |
| XM_006711915.2:c.2969A>G | XP_006711978.1:p.Tyr990Cys | |
| XM_006711916.2:c.3047A>G | XP_006711979.1:p.Tyr1016Cys | |
| XM_011532473.1:c.3047A>G | XP_011530775.1:p.Tyr1016Cys | |
| XM_011532474.1:c.3047A>G | XP_011530776.1:p.Tyr1016Cys | |
| XM_006711916.3:c.3047A>G | XP_006711979.1:p.Tyr1016Cys | |
| XM_017003117.1:c.2969A>G | XP_016858606.1:p.Tyr990Cys | |
| XR_002958896.1:n.3089A>G | ||
| NM_133259.4:c.3047A>G MANE Select | NP_573566.2:p.Tyr1016Cys |