Linked Data
ClinVar Variation Id:
3094353
ClinVar RCV Id:
RCV004391707
dbSNP Id:
rs763067630
gnomAD v2:
17-72860980-C-G
gnomAD v4:
17-74864858-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.74864858C>G , CM000679.2:g.74864858C>G | GRCh38 |
| NC_000017.10:g.72860980C>G , CM000679.1:g.72860980C>G | GRCh37 |
| NC_000017.9:g.70372575C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293195.10:c.683G>C MANE Select | ENSP00000293195.5:p.Arg228Pro | |
| ENST00000293195.9:c.683G>C | ENSP00000293195.5:p.Arg228Pro | |
| ENST00000413947.6:c.776G>C | ENSP00000408595.2:p.Arg259Pro | |
| ENST00000420580.6:c.563G>C | ENSP00000414172.2:p.Arg188Pro | |
| ENST00000442102.6:c.812G>C | ENSP00000416515.2:p.Arg271Pro | |
| ENST00000544854.5:c.527G>C | ENSP00000445432.1:p.Arg176Pro | |
| ENST00000577509.5:c.*642G>C | ENSP00000462083.1:n.*642G>C | |
| ENST00000578473.5:n.1371G>C | ||
| ENST00000579482.5:c.*795G>C | ENSP00000461993.1:n.*795G>C | |
| ENST00000581530.5:c.701G>C | ENSP00000462972.1:p.Arg234Pro | |
| ENST00000582710.5:c.655G>C | ||
| ENST00000582944.5:c.659G>C | ENSP00000462183.1:p.Arg220Pro | |
| ENST00000583881.5:c.*405G>C | ENSP00000464670.1:n.*405G>C | |
| ENST00000583917.5:c.686G>C | ENSP00000463940.1:p.Arg229Pro | |
| NM_001258012.3:c.812G>C | NP_001244941.2:p.Arg271Pro | |
| NM_001258013.3:c.776G>C | NP_001244942.2:p.Arg259Pro | |
| NM_001258014.3:c.659G>C | NP_001244943.2:p.Arg220Pro | |
| NM_001258015.2:c.563G>C | NP_001244944.1:p.Arg188Pro | |
| NM_001258016.3:c.527G>C | NP_001244945.2:p.Arg176Pro | |
| NM_004110.5:c.701G>C | NP_004101.3:p.Arg234Pro | |
| NM_024417.4:c.683G>C | NP_077728.3:p.Arg228Pro | |
| NR_047576.2:n.870G>C | ||
| XM_006721772.1:c.686G>C | XP_006721835.1:p.Arg229Pro | |
| XM_011524527.1:c.704G>C | XP_011522829.1:p.Arg235Pro | |
| XM_011524528.1:c.695G>C | XP_011522830.1:p.Arg232Pro | |
| XM_011524529.1:c.692G>C | XP_011522831.1:p.Arg231Pro | |
| XM_011524530.1:c.566G>C | XP_011522832.1:p.Arg189Pro | |
| XM_011524531.1:c.548G>C | XP_011522833.1:p.Arg183Pro | |
| XM_011524532.1:c.545G>C | XP_011522834.1:p.Arg182Pro | |
| XM_011524533.1:c.530G>C | XP_011522835.1:p.Arg177Pro | |
| XM_006721772.2:c.686G>C | XP_006721835.1:p.Arg229Pro | |
| XM_011524527.2:c.704G>C | XP_011522829.1:p.Arg235Pro | |
| XM_011524531.2:c.548G>C | XP_011522833.1:p.Arg183Pro | |
| XM_011524532.2:c.545G>C | XP_011522834.1:p.Arg182Pro | |
| XM_011524533.2:c.530G>C | XP_011522835.1:p.Arg177Pro | |
| XM_024450648.1:c.401G>C | XP_024306416.1:p.Arg134Pro | |
| XM_024450649.1:c.-47G>C | XP_024306417.1:n.-47G>C | |
| XM_024450650.1:c.-47G>C | XP_024306418.1:n.-47G>C | |
| XR_002957983.1:n.810G>C | ||
| NM_024417.5:c.683G>C MANE Select | NP_077728.3:p.Arg228Pro | |
| NM_001258012.4:c.812G>C | NP_001244941.2:p.Arg271Pro | |
| NM_001258013.4:c.776G>C | NP_001244942.2:p.Arg259Pro | |
| NM_001258014.4:c.659G>C | NP_001244943.2:p.Arg220Pro | |
| NM_001258015.3:c.563G>C | NP_001244944.1:p.Arg188Pro | |
| NM_004110.6:c.701G>C | NP_004101.3:p.Arg234Pro | |
| NR_047576.3:n.833G>C |