Linked Data
ClinVar Variation Id:
2054555
ClinVar RCV Id:
RCV002928086
dbSNP Id:
rs373469010
ExAC:
12:45741864 A / T
gnomAD v2:
12-45741864-A-T
gnomAD v3:
12-45348081-A-T
gnomAD v4:
12-45348081-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.45348081A>T , CM000674.2:g.45348081A>T | GRCh38 |
| NC_000012.11:g.45741864A>T , CM000674.1:g.45741864A>T | GRCh37 |
| NC_000012.10:g.44028131A>T | NCBI36 |
| NG_028220.1:g.137095A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320560.13:c.399A>T MANE Select | ENSP00000320087.8:p.Leu133Phe | |
| ENST00000679426.1:c.366A>T | ENSP00000506600.1:p.Leu122Phe | |
| ENST00000679761.1:c.399A>T | ENSP00000505361.1:p.Leu133Phe | |
| ENST00000680201.1:c.399A>T | ENSP00000506222.1:p.Leu133Phe | |
| ENST00000680371.1:c.399A>T | ENSP00000506392.1:p.Leu133Phe | |
| ENST00000680498.1:c.-19A>T | ENSP00000506613.1:n.-19A>T | |
| ENST00000681156.1:c.399A>T | ENSP00000506069.1:p.Leu133Phe | |
| ENST00000681817.1:c.-19A>T | ENSP00000506683.1:n.-19A>T | |
| ENST00000320560.12:c.399A>T | ENSP00000320087.8:p.Leu133Phe | |
| ENST00000423947.7:c.462A>T | ENSP00000409126.3:p.Leu154Phe | |
| ENST00000425752.6:c.399A>T | ENSP00000391417.2:p.Leu133Phe | |
| ENST00000426898.2:n.654A>T | ||
| ENST00000441606.2:c.345A>T | ENSP00000413137.2:p.Leu115Phe | |
| NM_001025356.2:c.399A>T | NP_001020527.2:p.Leu133Phe | |
| NM_001142678.1:c.345A>T | NP_001136150.1:p.Leu115Phe | |
| NM_001142679.1:c.399A>T | NP_001136151.1:p.Leu133Phe | |
| NM_001204803.1:c.462A>T | NP_001191732.1:p.Leu154Phe | |
| XM_005268706.3:c.366A>T | XP_005268763.1:p.Leu122Phe | |
| XM_005268707.2:c.300A>T | XP_005268764.1:p.Leu100Phe | |
| XM_011538024.1:c.462A>T | XP_011536326.1:p.Leu154Phe | |
| XM_005268706.5:c.366A>T | XP_005268763.1:p.Leu122Phe | |
| XM_005268707.4:c.300A>T | XP_005268764.1:p.Leu100Phe | |
| NM_001025356.3:c.399A>T MANE Select | NP_001020527.2:p.Leu133Phe | |
| NM_001142678.2:c.345A>T | NP_001136150.1:p.Leu115Phe | |
| NM_001142679.2:c.399A>T | NP_001136151.1:p.Leu133Phe | |
| NM_001204803.2:c.462A>T | NP_001191732.1:p.Leu154Phe |