Linked Data
ClinVar Variation Id:
991293
ClinVar RCV Id:
RCV001279484
dbSNP Id:
rs747154844
ExAC:
2:44121734 G / C
gnomAD v2:
2-44121734-G-C
gnomAD v3:
2-43894595-G-C
gnomAD v4:
2-43894595-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.43894595G>C , CM000664.2:g.43894595G>C | GRCh38 |
| NC_000002.11:g.44121734G>C , CM000664.1:g.44121734G>C | GRCh37 |
| NC_000002.10:g.43975238G>C | NCBI36 |
| NG_008247.1:g.106411C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000419884.6:c.565C>G | ||
| ENST00000681993.1:n.1487C>G | ||
| ENST00000682154.1:n.1369C>G | ||
| ENST00000682303.1:c.*3646C>G | ENSP00000508325.1:n.*3646C>G | |
| ENST00000682308.1:c.3860C>G | ENSP00000507056.1:p.Pro1287Arg | |
| ENST00000682434.1:n.3490C>G | ||
| ENST00000682480.1:c.3953C>G | ENSP00000508344.1:p.Pro1318Arg | |
| ENST00000682546.1:c.3932C>G | ENSP00000508188.1:p.Pro1311Arg | |
| ENST00000682585.1:c.*63C>G | ENSP00000506885.1:n.*63C>G | |
| ENST00000682607.1:c.2678C>G | ||
| ENST00000682612.1:c.752+2039C>G | ||
| ENST00000682696.1:c.35C>G | ENSP00000508411.1:p.Pro12Arg | |
| ENST00000682779.1:c.3926C>G | ENSP00000507947.1:p.Pro1309Arg | |
| ENST00000682885.1:c.3890C>G | ENSP00000508036.1:p.Pro1297Arg | |
| ENST00000682933.1:n.4135C>G | ||
| ENST00000683002.1:c.787C>G | ||
| ENST00000683072.1:n.4519C>G | ||
| ENST00000683080.1:n.1554C>G | ||
| ENST00000683096.1:n.2376C>G | ||
| ENST00000683125.1:c.4043C>G | ENSP00000507939.1:p.Pro1348Arg | |
| ENST00000683213.1:c.3938C>G | ENSP00000507751.1:p.Pro1313Arg | |
| ENST00000683220.1:c.3965C>G | ENSP00000507151.1:p.Pro1322Arg | |
| ENST00000683329.1:n.4738C>G | ||
| ENST00000683346.1:c.*3810C>G | ENSP00000507458.1:n.*3810C>G | |
| ENST00000683409.1:n.2467C>G | ||
| ENST00000683459.1:n.4522C>G | ||
| ENST00000683590.1:c.3608C>G | ENSP00000506820.1:p.Pro1203Arg | |
| ENST00000683623.1:c.3842C>G | ENSP00000507702.1:p.Pro1281Arg | |
| ENST00000683796.1:c.*3732C>G | ENSP00000508221.1:n.*3732C>G | |
| ENST00000683833.1:c.3851C>G | ENSP00000506852.1:p.Pro1284Arg | |
| ENST00000683994.1:c.*48C>G | ENSP00000507181.1:n.*48C>G | |
| ENST00000684290.1:c.*1396C>G | ENSP00000507243.1:n.*1396C>G | |
| ENST00000684306.1:c.*3848C>G | ENSP00000508384.1:n.*3848C>G | |
| ENST00000684383.1:c.*3573C>G | ENSP00000506863.1:n.*3573C>G | |
| ENST00000684418.1:n.5116C>G | ||
| ENST00000684433.1:n.319C>G | ||
| ENST00000684454.1:n.7799C>G | ||
| ENST00000684619.1:c.*3807C>G | ENSP00000508088.1:n.*3807C>G | |
| ENST00000684743.1:n.6680C>G | ||
| ENST00000260665.12:c.3935C>G MANE Select | ENSP00000260665.7:p.Pro1312Arg | |
| ENST00000260665.11:c.3935C>G | ENSP00000260665.7:p.Pro1312Arg | |
| ENST00000419884.5:c.176C>G | ENSP00000414207.1:p.Pro59Arg | |
| ENST00000463456.5:n.2978C>G | ||
| NM_133259.3:c.3935C>G | NP_573566.2:p.Pro1312Arg | |
| XM_006711915.2:c.3857C>G | XP_006711978.1:p.Pro1286Arg | |
| XM_011532473.1:c.3860C>G | XP_011530775.1:p.Pro1287Arg | |
| XM_011532474.1:c.3935C>G | XP_011530776.1:p.Pro1312Arg | |
| XM_017003117.1:c.3782C>G | XP_016858606.1:p.Pro1261Arg | |
| XR_002958896.1:n.3977C>G | ||
| NM_133259.4:c.3935C>G MANE Select | NP_573566.2:p.Pro1312Arg |