Linked Data
ClinVar Variation Id:
333435
dbSNP Id:
rs80358239
ExAC:
2:202074086 A / T
gnomAD v2:
2-202074086-A-T
gnomAD v3:
2-201209363-A-T
gnomAD v4:
2-201209363-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.201209363A>T , CM000664.2:g.201209363A>T | GRCh38 |
| NC_000002.11:g.202074086A>T , CM000664.1:g.202074086A>T | GRCh37 |
| NC_000002.10:g.201782331A>T | NCBI36 |
| NG_007265.1:g.31232A>T , LRG_33:g.31232A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313728.12:c.1015A>T | ENSP00000314599.7:p.Ile339Leu | |
| ENST00000346817.10:c.1087A>T | ENSP00000237865.7:p.Ile363Leu | |
| ENST00000438843.6:c.*673A>T | ENSP00000401914.1:n.*673A>T | |
| ENST00000492363.6:c.*302A>T | ENSP00000512459.1:n.*302A>T | |
| ENST00000696199.1:c.721+5597A>T | ENSP00000512481.1:n.721+5597A>T | |
| ENST00000286186.11:c.1216A>T MANE Select | ENSP00000286186.6:p.Ile406Leu | |
| ENST00000272879.9:c.1216A>T | ENSP00000272879.5:p.Ile406Leu | |
| ENST00000286186.10:c.1216A>T | ENSP00000286186.6:p.Ile406Leu | |
| ENST00000313728.11:c.1015A>T | ENSP00000314599.7:p.Ile339Leu | |
| ENST00000346817.9:c.1087A>T | ENSP00000237865.7:p.Ile363Leu | |
| ENST00000360132.7:c.*302A>T | ENSP00000353250.3:n.*302A>T | |
| ENST00000448480.1:c.1087A>T | ENSP00000396835.1:p.Ile363Leu | |
| ENST00000492363.5:n.1124A>T | ||
| NM_001206524.1:c.1015A>T | NP_001193453.1:p.Ile339Leu | |
| NM_001206542.1:c.1087A>T | NP_001193471.1:p.Ile363Leu | |
| NM_001230.4:c.1087A>T | NP_001221.2:p.Ile363Leu | |
| NM_032974.4:c.1216A>T | NP_116756.2:p.Ile406Leu | |
| NM_032976.3:c.*302A>T | NP_116758.1:n.*302A>T | |
| NM_032977.3:c.1216A>T , LRG_33t1:c.1216A>T | NP_116759.2:p.Ile406Leu | |
| XM_005246907.2:c.1213A>T | XP_005246964.1:p.Ile405Leu | |
| XM_006712796.2:c.466A>T | XP_006712859.1:p.Ile156Leu | |
| XM_006712796.3:c.466A>T | XP_006712859.1:p.Ile156Leu | |
| NM_001206524.2:c.1015A>T | NP_001193453.1:p.Ile339Leu | |
| NM_001206542.2:c.1087A>T | NP_001193471.1:p.Ile363Leu | |
| NM_001230.5:c.1087A>T | NP_001221.2:p.Ile363Leu | |
| NM_032974.5:c.1216A>T | NP_116756.2:p.Ile406Leu | |
| NM_032977.4:c.1216A>T MANE Select | NP_116759.2:p.Ile406Leu | |
| NM_032976.4:c.*302A>T | NP_116758.1:n.*302A>T |