Linked Data
ClinVar Variation Id:
7764
ClinVar RCV Id:
RCV000008205
dbSNP Id:
rs17860403
ExAC:
2:202072837 C / T
gnomAD v2:
2-202072837-C-T
gnomAD v3:
2-201208114-C-T
gnomAD v4:
2-201208114-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201208114C>T , CM000664.2:g.201208114C>T | GRCh38 |
| NC_000002.11:g.202072837C>T , CM000664.1:g.202072837C>T | GRCh37 |
| NC_000002.10:g.201781082C>T | NCBI36 |
| NG_007265.1:g.29983C>T , LRG_33:g.29983C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000313728.12:c.722-956C>T | ENSP00000314599.7:n.722-956C>T | |
| ENST00000346817.10:c.724C>T | ENSP00000237865.7:p.Leu242Phe | |
| ENST00000438843.6:c.*310C>T | ENSP00000401914.1:n.*310C>T | |
| ENST00000492363.6:c.761C>T | ENSP00000512459.1:p.Pro254Leu | |
| ENST00000696199.1:c.721+4348C>T | ENSP00000512481.1:n.721+4348C>T | |
| ENST00000286186.11:c.853C>T MANE Select | ENSP00000286186.6:p.Leu285Phe | |
| ENST00000272879.9:c.853C>T | ENSP00000272879.5:p.Leu285Phe | |
| ENST00000286186.10:c.853C>T | ENSP00000286186.6:p.Leu285Phe | |
| ENST00000313728.11:c.722-956C>T | ENSP00000314599.7:n.722-956C>T | |
| ENST00000346817.9:c.724C>T | ENSP00000237865.7:p.Leu242Phe | |
| ENST00000360132.7:c.761C>T | ENSP00000353250.3:p.Pro254Leu | |
| ENST00000438843.5:c.*310C>T | ENSP00000401914.1:n.*310C>T | |
| ENST00000448480.1:c.724C>T | ENSP00000396835.1:p.Leu242Phe | |
| ENST00000492363.5:n.761C>T | ||
| NM_001206524.1:c.722-956C>T | NP_001193453.1:n.722-956C>T | |
| NM_001206542.1:c.724C>T | NP_001193471.1:p.Leu242Phe | |
| NM_001230.4:c.724C>T | NP_001221.2:p.Leu242Phe | |
| NM_032974.4:c.853C>T | NP_116756.2:p.Leu285Phe | |
| NM_032976.3:c.761C>T | NP_116758.1:p.Pro254Leu | |
| NM_032977.3:c.853C>T , LRG_33t1:c.853C>T | NP_116759.2:p.Leu285Phe | |
| XM_005246907.2:c.850C>T | XP_005246964.1:p.Leu284Phe | |
| XM_006712796.2:c.103C>T | XP_006712859.1:p.Leu35Phe | |
| XM_011511990.1:c.758C>T | XP_011510292.1:p.Pro253Leu | |
| XR_923043.1:n.1057C>T | ||
| XR_923044.1:n.965C>T | ||
| XM_006712796.3:c.103C>T | XP_006712859.1:p.Leu35Phe | |
| XM_011511990.2:c.758C>T | XP_011510292.1:p.Pro253Leu | |
| XR_923043.2:n.1057C>T | ||
| XR_923044.2:n.965C>T | ||
| NM_001206524.2:c.722-956C>T | NP_001193453.1:n.722-956C>T | |
| NM_001206542.2:c.724C>T | NP_001193471.1:p.Leu242Phe | |
| NM_001230.5:c.724C>T | NP_001221.2:p.Leu242Phe | |
| NM_032974.5:c.853C>T | NP_116756.2:p.Leu285Phe | |
| NM_032977.4:c.853C>T MANE Select | NP_116759.2:p.Leu285Phe | |
| NM_032976.4:c.761C>T | NP_116758.1:p.Pro254Leu |