Linked Data
ClinVar Variation Id:
31118
ClinVar RCV Id:
RCV000024114
dbSNP Id:
rs387907113
gnomAD v4:
3-46993986-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.46993986T>C , CM000665.2:g.46993986T>C | GRCh38 |
| NC_000003.11:g.47035476T>C , CM000665.1:g.47035476T>C | GRCh37 |
| NC_000003.10:g.47010480T>C | NCBI36 |
| NG_031914.1:g.19304T>C , LRG_568:g.19304T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450053.8:c.1163T>C MANE Select | ENSP00000415034.2:p.Leu388Pro | |
| ENST00000651747.1:c.1061T>C | ENSP00000499216.1:p.Leu354Pro | |
| ENST00000450053.7:c.1163T>C | ENSP00000415034.2:p.Leu388Pro | |
| NM_015175.2:c.1163T>C , LRG_568t1:c.1163T>C | NP_055990.1:p.Leu388Pro | |
| XM_005264992.2:c.1061T>C | XP_005265049.1:p.Leu354Pro | |
| XM_006713072.2:c.1082T>C | XP_006713135.1:p.Leu361Pro | |
| XM_011533532.1:c.1142T>C | XP_011531834.1:p.Leu381Pro | |
| XM_011533533.1:c.1163T>C | XP_011531835.1:p.Leu388Pro | |
| XM_011533534.1:c.794T>C | XP_011531836.1:p.Leu265Pro | |
| XM_011533535.1:c.623T>C | XP_011531837.1:p.Leu208Pro | |
| XM_011533536.1:c.509T>C | XP_011531838.1:p.Leu170Pro | |
| XM_011533537.1:c.71T>C | XP_011531839.1:p.Leu24Pro | |
| XR_940397.1:n.1339T>C | ||
| XR_940398.1:n.1339T>C | ||
| NM_001365116.1:c.1061T>C | NP_001352045.1:p.Leu354Pro | |
| XM_006713072.3:c.1082T>C | XP_006713135.1:p.Leu361Pro | |
| XM_011533533.2:c.1163T>C | XP_011531835.1:p.Leu388Pro | |
| XM_017006010.1:c.1163T>C | XP_016861499.1:p.Leu388Pro | |
| XM_017006011.1:c.1142T>C | XP_016861500.1:p.Leu381Pro | |
| XM_017006012.1:c.1082T>C | XP_016861501.1:p.Leu361Pro | |
| XM_017006013.1:c.1163T>C | XP_016861502.1:p.Leu388Pro | |
| XM_017006014.1:c.1061T>C | XP_016861503.1:p.Leu354Pro | |
| XM_017006015.1:c.794T>C | XP_016861504.1:p.Leu265Pro | |
| XM_017006016.1:c.623T>C | XP_016861505.1:p.Leu208Pro | |
| XR_940397.2:n.1339T>C | ||
| NM_001365116.2:c.1061T>C | NP_001352045.1:p.Leu354Pro | |
| NM_015175.3:c.1163T>C MANE Select | NP_055990.1:p.Leu388Pro |