Linked Data
ClinVar Variation Id:
11886
ClinVar RCV Id:
RCV000012661
dbSNP Id:
rs199422114
gnomAD v3:
7-140017766-T-C
gnomAD v4:
7-140017766-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.140017766T>C , CM000669.2:g.140017766T>C | GRCh38 |
| NC_000007.13:g.139717566T>C , CM000669.1:g.139717566T>C | GRCh37 |
| NC_000007.12:g.139364035T>C | NCBI36 |
| NG_008422.2:g.244385T>C , LRG_579:g.244385T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000336425.10:c.1460T>C | ENSP00000338087.7:p.Leu487Pro | |
| ENST00000411653.6:c.1364+1906T>C | ENSP00000411326.3:n.1364+1906T>C | |
| ENST00000422328.6:c.*1249T>C | ENSP00000415892.3:n.*1249T>C | |
| ENST00000448866.7:c.1460T>C MANE Select | ENSP00000402536.3:p.Leu487Pro | |
| ENST00000458722.6:c.1598T>C | ENSP00000411274.3:p.Leu533Pro | |
| ENST00000650822.1:c.1463T>C | ENSP00000498517.1:p.Leu488Pro | |
| ENST00000652056.1:c.1367+1906T>C | ENSP00000498271.1:n.1367+1906T>C | |
| ENST00000263552.10:c.1463T>C | ENSP00000263552.6:p.Leu488Pro | |
| ENST00000336425.9:c.1460T>C | ENSP00000338087.5:p.Leu487Pro | |
| ENST00000411653.5:c.1364+1906T>C | ENSP00000411326.1:n.1364+1906T>C | |
| ENST00000414508.6:c.1367+1906T>C | ENSP00000392702.2:n.1367+1906T>C | |
| ENST00000416849.6:c.1601T>C | ENSP00000389414.2:p.Leu534Pro | |
| ENST00000422328.5:c.*1249T>C | ENSP00000415892.1:n.*1249T>C | |
| ENST00000425687.5:c.1259T>C | ENSP00000388736.1:p.Leu420Pro | |
| ENST00000448866.5:c.1460T>C | ENSP00000402536.1:p.Leu487Pro | |
| ENST00000458722.5:c.1598T>C | ENSP00000411274.1:p.Leu533Pro | |
| NM_001061.4:c.1463T>C | NP_001052.2:p.Leu488Pro | |
| NM_001130966.2:c.1463T>C , LRG_579t1:c.1463T>C | NP_001124438.1:p.Leu488Pro | |
| NM_001166253.1:c.1601T>C , LRG_579t4:c.1601T>C | NP_001159725.1:p.Leu534Pro | |
| NM_001166254.1:c.1259T>C , LRG_579t3:c.1259T>C | NP_001159726.1:p.Leu420Pro | |
| NM_001314028.1:c.1403T>C | NP_001300957.1:p.Leu468Pro | |
| NM_030984.3:c.1367+1906T>C , LRG_579t2:c.1367+1906T>C | NP_112246.2:n.1367+1906T>C | |
| NR_029394.1:c.-4294965569T>C | ||
| NM_001061.5:c.1460T>C | NP_001052.3:p.Leu487Pro | |
| NM_001130966.3:c.1460T>C | NP_001124438.2:p.Leu487Pro | |
| NM_001166253.2:c.1598T>C | NP_001159725.2:p.Leu533Pro | |
| NM_001166254.2:c.1259T>C | NP_001159726.1:p.Leu420Pro | |
| NM_001314028.2:c.1403T>C | NP_001300957.1:p.Leu468Pro | |
| NM_001366537.1:c.1277T>C | NP_001353466.1:p.Leu426Pro | |
| NM_030984.4:c.1364+1906T>C | NP_112246.3:n.1364+1906T>C | |
| XM_024446901.1:c.1205T>C | XP_024302669.1:p.Leu402Pro | |
| NM_001061.7:c.1460T>C MANE Select | NP_001052.3:p.Leu487Pro | |
| NM_001130966.4:c.1460T>C | NP_001124438.2:p.Leu487Pro | |
| NM_001166253.3:c.1598T>C | NP_001159725.2:p.Leu533Pro | |
| NM_001166254.3:c.1259T>C | NP_001159726.1:p.Leu420Pro | |
| NM_001314028.3:c.1403T>C | NP_001300957.1:p.Leu468Pro | |
| NM_001366537.2:c.1277T>C | NP_001353466.1:p.Leu426Pro | |
| NM_030984.5:c.1364+1906T>C | NP_112246.3:n.1364+1906T>C | |
| NM_001130966.5:c.1460T>C | NP_001124438.2:p.Leu487Pro | |
| NM_001166253.4:c.1598T>C | NP_001159725.2:p.Leu533Pro | |
| NM_001166254.4:c.1259T>C | NP_001159726.1:p.Leu420Pro | |
| NM_001314028.4:c.1403T>C | NP_001300957.1:p.Leu468Pro | |
| NM_001366537.3:c.1277T>C | NP_001353466.1:p.Leu426Pro | |
| NM_030984.6:c.1364+1906T>C | NP_112246.3:n.1364+1906T>C |