Linked Data
ClinVar Variation Id:
408889
dbSNP Id:
rs1060502171
gnomAD v2:
X-132888186-C-A
gnomAD v3:
X-133754159-C-A
gnomAD v4:
X-133754159-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.133754159C>A , CM000685.2:g.133754159C>A | GRCh38 |
| NC_000023.10:g.132888186C>A , CM000685.1:g.132888186C>A | GRCh37 |
| NC_000023.9:g.132715852C>A | NCBI36 |
| NG_009286.1:g.236481G>T , LRG_505:g.236481G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684880.1:c.426G>T | ENSP00000510280.1:p.Leu142Phe | |
| ENST00000689310.1:c.307G>T | ENSP00000510438.1:p.Val103Phe | |
| ENST00000692630.1:n.485G>T | ||
| ENST00000370818.8:c.355G>T MANE Select | ENSP00000359854.3:p.Val119Phe | |
| ENST00000394299.7:c.355G>T | ENSP00000377836.2:p.Val119Phe | |
| ENST00000370818.7:c.355G>T | ENSP00000359854.3:p.Val119Phe | |
| ENST00000394299.6:c.355G>T | ENSP00000377836.2:p.Val119Phe | |
| ENST00000631057.2:c.193G>T | ENSP00000486325.1:p.Val65Phe | |
| NM_001164617.1:c.355G>T | NP_001158089.1:p.Val119Phe | |
| NM_001164618.1:c.307G>T | NP_001158090.1:p.Val103Phe | |
| NM_001164619.1:c.193G>T | NP_001158091.1:p.Val65Phe | |
| NM_004484.3:c.355G>T , LRG_505t1:c.355G>T | NP_004475.1:p.Val119Phe | |
| XM_017029413.2:c.355G>T | XP_016884902.1:p.Val119Phe | |
| NM_001164617.2:c.355G>T | NP_001158089.1:p.Val119Phe | |
| NM_001164618.2:c.307G>T | NP_001158090.1:p.Val103Phe | |
| NM_001164619.2:c.193G>T | NP_001158091.1:p.Val65Phe | |
| NM_004484.4:c.355G>T MANE Select | NP_004475.1:p.Val119Phe |