Linked Data
ClinVar Variation Id:
1024637
dbSNP Id:
rs774857058
ExAC:
2:44145468 C / G
gnomAD v2:
2-44145468-C-G
gnomAD v3:
2-43918329-C-G
gnomAD v4:
2-43918329-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43918329C>G , CM000664.2:g.43918329C>G | GRCh38 |
| NC_000002.11:g.44145468C>G , CM000664.1:g.44145468C>G | GRCh37 |
| NC_000002.10:g.43998972C>G | NCBI36 |
| NG_008247.1:g.82677G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681993.1:n.518G>C | ||
| ENST00000682295.1:c.230G>C | ENSP00000507499.1:p.Arg77Pro | |
| ENST00000682303.1:c.*2752G>C | ENSP00000508325.1:n.*2752G>C | |
| ENST00000682308.1:c.2966G>C | ENSP00000507056.1:p.Arg989Pro | |
| ENST00000682480.1:c.2966G>C | ENSP00000508344.1:p.Arg989Pro | |
| ENST00000682546.1:c.2963G>C | ENSP00000508188.1:p.Arg988Pro | |
| ENST00000682585.1:c.2966G>C | ENSP00000506885.1:p.Arg989Pro | |
| ENST00000682595.1:n.3550G>C | ||
| ENST00000682607.1:c.1384G>C | ||
| ENST00000682779.1:c.2957G>C | ENSP00000507947.1:p.Arg986Pro | |
| ENST00000682845.1:n.2068G>C | ||
| ENST00000682885.1:c.2921G>C | ENSP00000508036.1:p.Arg974Pro | |
| ENST00000682933.1:n.3040G>C | ||
| ENST00000683072.1:n.3550G>C | ||
| ENST00000683080.1:n.585G>C | ||
| ENST00000683125.1:c.3074G>C | ENSP00000507939.1:p.Arg1025Pro | |
| ENST00000683213.1:c.2969G>C | ENSP00000507751.1:p.Arg990Pro | |
| ENST00000683220.1:c.2996G>C | ENSP00000507151.1:p.Arg999Pro | |
| ENST00000683236.1:c.296G>C | ENSP00000506891.1:n.296G>C | |
| ENST00000683329.1:n.3769G>C | ||
| ENST00000683346.1:c.*2841G>C | ENSP00000507458.1:n.*2841G>C | |
| ENST00000683409.1:n.1573G>C | ||
| ENST00000683459.1:n.3553G>C | ||
| ENST00000683590.1:c.2897-5771G>C | ENSP00000506820.1:n.2897-5771G>C | |
| ENST00000683623.1:c.2873G>C | ENSP00000507702.1:p.Arg958Pro | |
| ENST00000683645.1:n.3517G>C | ||
| ENST00000683796.1:c.*2838G>C | ENSP00000508221.1:n.*2838G>C | |
| ENST00000683802.1:n.5891G>C | ||
| ENST00000683833.1:c.2957G>C | ENSP00000506852.1:p.Arg986Pro | |
| ENST00000683994.1:c.2966G>C | ENSP00000507181.1:p.Arg989Pro | |
| ENST00000684290.1:c.*502G>C | ENSP00000507243.1:n.*502G>C | |
| ENST00000684306.1:c.*2879G>C | ENSP00000508384.1:n.*2879G>C | |
| ENST00000684341.1:n.2986G>C | ||
| ENST00000684383.1:c.*2604G>C | ENSP00000506863.1:n.*2604G>C | |
| ENST00000684619.1:c.*2838G>C | ENSP00000508088.1:n.*2838G>C | |
| ENST00000684705.1:n.87G>C | ||
| ENST00000684743.1:n.3997G>C | ||
| ENST00000260665.12:c.2966G>C MANE Select | ENSP00000260665.7:p.Arg989Pro | |
| ENST00000260665.11:c.2966G>C | ENSP00000260665.7:p.Arg989Pro | |
| NM_133259.3:c.2966G>C | NP_573566.2:p.Arg989Pro | |
| XM_006711915.2:c.2888G>C | XP_006711978.1:p.Arg963Pro | |
| XM_006711916.2:c.2966G>C | XP_006711979.1:p.Arg989Pro | |
| XM_011532473.1:c.2966G>C | XP_011530775.1:p.Arg989Pro | |
| XM_011532474.1:c.2966G>C | XP_011530776.1:p.Arg989Pro | |
| XM_006711916.3:c.2966G>C | XP_006711979.1:p.Arg989Pro | |
| XM_017003117.1:c.2888G>C | XP_016858606.1:p.Arg963Pro | |
| XR_002958896.1:n.3008G>C | ||
| NM_133259.4:c.2966G>C MANE Select | NP_573566.2:p.Arg989Pro |