Linked Data
ClinVar Variation Id:
9145
dbSNP Id:
rs121434632
gnomAD v2:
15-73023915-G-C
gnomAD v4:
15-72731574-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72731574G>C , CM000677.2:g.72731574G>C | GRCh38 |
| NC_000015.9:g.73023915G>C , CM000677.1:g.73023915G>C | GRCh37 |
| NC_000015.8:g.70810968G>C | NCBI36 |
| NG_009416.2:g.50390G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268057.9:c.884G>C MANE Select | ENSP00000268057.4:p.Arg295Pro | |
| ENST00000268057.8:c.884G>C | ENSP00000268057.4:p.Arg295Pro | |
| ENST00000395205.6:c.368G>C | ENSP00000378631.3:p.Arg123Pro | |
| ENST00000562084.5:c.*963G>C | ENSP00000454718.1:n.*963G>C | |
| ENST00000562219.1:n.319G>C | ||
| ENST00000566400.5:c.*774G>C | ENSP00000456759.1:n.*774G>C | |
| ENST00000567279.5:c.*738G>C | ENSP00000456664.1:n.*738G>C | |
| ENST00000569151.1:n.18G>C | ||
| ENST00000569338.5:c.806G>C | ENSP00000456758.1:p.Arg269Pro | |
| NM_001252678.1:c.368G>C | NP_001239607.1:p.Arg123Pro | |
| NM_033028.4:c.884G>C | NP_149017.2:p.Arg295Pro | |
| NR_045565.1:n.991G>C | ||
| NR_045566.1:n.1246G>C | ||
| XM_006720625.2:c.815G>C | XP_006720688.1:p.Arg272Pro | |
| XM_011521848.1:c.368G>C | XP_011520150.1:p.Arg123Pro | |
| XM_011521849.1:c.368G>C | XP_011520151.1:p.Arg123Pro | |
| XM_011521850.1:c.368G>C | XP_011520152.1:p.Arg123Pro | |
| XM_011521851.1:c.152G>C | XP_011520153.1:p.Arg51Pro | |
| NM_001320665.1:c.815G>C | NP_001307594.1:p.Arg272Pro | |
| XM_017022450.1:c.839G>C | XP_016877939.1:p.Arg280Pro | |
| XM_017022452.1:c.368G>C | XP_016877941.1:p.Arg123Pro | |
| XM_017022453.1:c.368G>C | XP_016877942.1:p.Arg123Pro | |
| XM_017022454.1:c.368G>C | XP_016877943.1:p.Arg123Pro | |
| NM_033028.5:c.884G>C MANE Select | NP_149017.2:p.Arg295Pro | |
| NM_001252678.2:c.368G>C | NP_001239607.1:p.Arg123Pro | |
| NM_001320665.2:c.815G>C | NP_001307594.1:p.Arg272Pro | |
| NR_045565.2:n.963G>C | ||
| NR_045566.2:n.1218G>C |