Linked Data
ClinVar Variation Id:
333441
dbSNP Id:
rs148939095
ExAC:
2:202082397 C / T
gnomAD v2:
2-202082397-C-T
gnomAD v3:
2-201217674-C-T
gnomAD v4:
2-201217674-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201217674C>T , CM000664.2:g.201217674C>T | GRCh38 |
| NC_000002.11:g.202082397C>T , CM000664.1:g.202082397C>T | GRCh37 |
| NC_000002.10:g.201790642C>T | NCBI36 |
| NG_007265.1:g.39543C>T , LRG_33:g.39543C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313728.12:c.1301C>T | ENSP00000314599.7:p.Pro434Leu | |
| ENST00000346817.10:c.1373C>T | ENSP00000237865.7:p.Pro458Leu | |
| ENST00000492363.6:c.*588C>T | ENSP00000512459.1:n.*588C>T | |
| ENST00000696199.1:c.722-11256C>T | ENSP00000512481.1:n.722-11256C>T | |
| ENST00000286186.11:c.1502C>T MANE Select | ENSP00000286186.6:p.Pro501Leu | |
| ENST00000272879.9:c.1415+8112C>T | ENSP00000272879.5:n.1415+8112C>T | |
| ENST00000286186.10:c.1502C>T | ENSP00000286186.6:p.Pro501Leu | |
| ENST00000313728.11:c.1301C>T | ENSP00000314599.7:p.Pro434Leu | |
| ENST00000346817.9:c.1373C>T | ENSP00000237865.7:p.Pro458Leu | |
| ENST00000360132.7:c.*588C>T | ENSP00000353250.3:n.*588C>T | |
| ENST00000448480.1:c.1286+8112C>T | ENSP00000396835.1:n.1286+8112C>T | |
| ENST00000492363.5:n.1410C>T | ||
| NM_001206524.1:c.1301C>T | NP_001193453.1:p.Pro434Leu | |
| NM_001206542.1:c.1286+8112C>T | NP_001193471.1:n.1286+8112C>T | |
| NM_001230.4:c.1373C>T | NP_001221.2:p.Pro458Leu | |
| NM_032974.4:c.1415+8112C>T | NP_116756.2:n.1415+8112C>T | |
| NM_032976.3:c.*588C>T | NP_116758.1:n.*588C>T | |
| NM_032977.3:c.1502C>T , LRG_33t1:c.1502C>T | NP_116759.2:p.Pro501Leu | |
| XM_005246907.2:c.1499C>T | XP_005246964.1:p.Pro500Leu | |
| XM_006712796.2:c.752C>T | XP_006712859.1:p.Pro251Leu | |
| XM_006712796.3:c.752C>T | XP_006712859.1:p.Pro251Leu | |
| NM_001206524.2:c.1301C>T | NP_001193453.1:p.Pro434Leu | |
| NM_001206542.2:c.1286+8112C>T | NP_001193471.1:n.1286+8112C>T | |
| NM_001230.5:c.1373C>T | NP_001221.2:p.Pro458Leu | |
| NM_032974.5:c.1415+8112C>T | NP_116756.2:n.1415+8112C>T | |
| NM_032977.4:c.1502C>T MANE Select | NP_116759.2:p.Pro501Leu | |
| NM_032976.4:c.*588C>T | NP_116758.1:n.*588C>T |