Linked Data
ClinVar Variation Id:
543741
ClinVar RCV Id:
RCV000654577
RCV000709125
RCV001018329
RCV001106020
RCV001106021
RCV001106022
RCV001106023
RCV003318621
RCV003493698
dbSNP Id:
rs766330880
ExAC:
10:43622035 C / T
gnomAD v2:
10-43622035-C-T
gnomAD v3:
10-43126587-C-T
gnomAD v4:
10-43126587-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43126587C>T , CM000672.2:g.43126587C>T | GRCh38 |
| NC_000010.10:g.43622035C>T , CM000672.1:g.43622035C>T | GRCh37 |
| NC_000010.9:g.42942041C>T | NCBI36 |
| NG_007489.1:g.54519C>T , LRG_518:g.54519C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.2656C>T | ENSP00000480088.2:p.Leu886Phe | |
| ENST00000683007.1:n.2626C>T | ||
| ENST00000340058.6:c.3052C>T | ENSP00000344798.4:p.Leu1018Phe | |
| ENST00000355710.8:c.3052C>T MANE Select | ENSP00000347942.3:p.Leu1018Phe | |
| ENST00000671844.1:c.*1646C>T | ENSP00000500541.1:n.*1646C>T | |
| ENST00000672389.1:c.*1646C>T | ENSP00000500252.1:n.*1646C>T | |
| ENST00000340058.5:c.3052C>T | ENSP00000344798.4:p.Leu1018Phe | |
| ENST00000355710.7:c.3052C>T | ENSP00000347942.3:p.Leu1018Phe | |
| ENST00000615310.4:c.*401C>T | ENSP00000480088.1:n.*401C>T | |
| NM_020630.4:c.3052C>T , LRG_518t2:c.3052C>T | NP_065681.1:p.Leu1018Phe | |
| NM_020975.4:c.3052C>T , LRG_518t1:c.3052C>T | NP_066124.1:p.Leu1018Phe | |
| XM_011540027.1:c.3052C>T | XP_011538329.1:p.Leu1018Phe | |
| NM_001355216.1:c.2290C>T | NP_001342145.1:p.Leu764Phe | |
| NM_020630.5:c.3052C>T | NP_065681.1:p.Leu1018Phe | |
| NM_020975.5:c.3052C>T | NP_066124.1:p.Leu1018Phe | |
| NM_020975.6:c.3052C>T MANE Select | NP_066124.1:p.Leu1018Phe | |
| NM_020630.6:c.3052C>T | NP_065681.1:p.Leu1018Phe |