Linked Data
ClinVar Variation Id:
38612
ClinVar RCV Id:
RCV000163610
RCV000339507
RCV000539138
RCV000709758
RCV000984325
RCV003466882
RCV003483444
dbSNP Id:
rs75030001
ExAC:
10:43613906 G / T
gnomAD v2:
10-43613906-G-T
gnomAD v3:
10-43118458-G-T
gnomAD v4:
10-43118458-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43118458G>T , CM000672.2:g.43118458G>T | GRCh38 |
| NC_000010.10:g.43613906G>T , CM000672.1:g.43613906G>T | GRCh37 |
| NC_000010.9:g.42933912G>T | NCBI36 |
| NG_007489.1:g.46390G>T , LRG_518:g.46390G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.1974G>T | ENSP00000480088.2:p.Leu658Phe | |
| ENST00000683007.1:n.1944G>T | ||
| ENST00000683872.1:n.1935G>T | ||
| ENST00000340058.6:c.2370G>T | ENSP00000344798.4:p.Leu790Phe | |
| ENST00000355710.8:c.2370G>T MANE Select | ENSP00000347942.3:p.Leu790Phe | |
| ENST00000671844.1:c.*964G>T | ENSP00000500541.1:n.*964G>T | |
| ENST00000672389.1:c.*964G>T | ENSP00000500252.1:n.*964G>T | |
| ENST00000340058.5:c.2370G>T | ENSP00000344798.4:p.Leu790Phe | |
| ENST00000355710.7:c.2370G>T | ENSP00000347942.3:p.Leu790Phe | |
| ENST00000615310.4:c.1290-1244G>T | ENSP00000480088.1:n.1290-1244G>T | |
| NM_020630.4:c.2370G>T , LRG_518t2:c.2370G>T | NP_065681.1:p.Leu790Phe | |
| NM_020975.4:c.2370G>T , LRG_518t1:c.2370G>T | NP_066124.1:p.Leu790Phe | |
| XM_011540027.1:c.2370G>T | XP_011538329.1:p.Leu790Phe | |
| NM_001355216.1:c.1608G>T | NP_001342145.1:p.Leu536Phe | |
| NM_020630.5:c.2370G>T | NP_065681.1:p.Leu790Phe | |
| NM_020975.5:c.2370G>T | NP_066124.1:p.Leu790Phe | |
| NM_020975.6:c.2370G>T MANE Select | NP_066124.1:p.Leu790Phe | |
| NM_020630.6:c.2370G>T | NP_065681.1:p.Leu790Phe |