Linked Data
ClinVar Variation Id:
525355
ClinVar RCV Id:
RCV000629410
dbSNP Id:
rs748063803
ExAC:
6:38697734 G / T
gnomAD v2:
6-38697734-G-T
gnomAD v3:
6-38729958-G-T
gnomAD v4:
6-38729958-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.38729958G>T , CM000668.2:g.38729958G>T | GRCh38 |
| NC_000006.11:g.38697734G>T , CM000668.1:g.38697734G>T | GRCh37 |
| NC_000006.10:g.38805712G>T | NCBI36 |
| NG_041805.1:g.19618G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327475.11:c.582G>T MANE Select | ENSP00000333363.7:p.Leu194Phe | |
| ENST00000327475.10:c.582G>T | ENSP00000333363.7:p.Leu194Phe | |
| ENST00000359357.7:c.-41-4516G>T | ENSP00000352312.3:n.-41-4516G>T | |
| ENST00000373278.8:c.582G>T | ENSP00000362375.4:p.Leu194Phe | |
| ENST00000449981.6:c.582G>T | ENSP00000415331.2:p.Leu194Phe | |
| NM_001206927.1:c.582G>T | NP_001193856.1:p.Leu194Phe | |
| XM_011514318.1:c.582G>T | XP_011512620.1:p.Leu194Phe | |
| XM_011514319.1:c.582G>T | XP_011512621.1:p.Leu194Phe | |
| XM_011514320.1:c.525+6487G>T | XP_011512622.1:n.525+6487G>T | |
| XM_011514321.1:c.-41-4516G>T | XP_011512623.1:n.-41-4516G>T | |
| XM_011514322.1:c.582G>T | XP_011512624.1:p.Leu194Phe | |
| XR_926078.1:n.699G>T | ||
| NM_001371.3:c.-41-4516G>T | NP_001362.2:n.-41-4516G>T | |
| XM_011514318.2:c.582G>T | XP_011512620.1:p.Leu194Phe | |
| XM_011514319.2:c.582G>T | XP_011512621.1:p.Leu194Phe | |
| XM_011514320.2:c.525+6487G>T | XP_011512622.1:n.525+6487G>T | |
| XM_017010325.1:c.582G>T | XP_016865814.1:p.Leu194Phe | |
| XM_017010326.1:c.582G>T | XP_016865815.1:p.Leu194Phe | |
| XM_017010327.1:c.582G>T | XP_016865816.1:p.Leu194Phe | |
| XR_001743188.1:n.703G>T | ||
| XR_926078.2:n.702G>T | ||
| NM_001206927.2:c.582G>T MANE Select | NP_001193856.1:p.Leu194Phe | |
| NM_001371.4:c.-41-4516G>T | NP_001362.2:n.-41-4516G>T |