Linked Data
ClinVar Variation Id:
988209
ClinVar RCV Id:
RCV001328231
dbSNP Id:
rs1735527919
gnomAD v3:
4-39273022-C-T
gnomAD v4:
4-39273022-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.39273022C>T , CM000666.2:g.39273022C>T | GRCh38 |
| NC_000004.11:g.39274642C>T , CM000666.1:g.39274642C>T | GRCh37 |
| NC_000004.10:g.38951037C>T | NCBI36 |
| NG_031813.1:g.95619C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399820.8:c.3526C>T MANE Select | ENSP00000382717.3:p.Leu1176Phe | |
| ENST00000399820.7:c.3526C>T | ENSP00000382717.3:p.Leu1176Phe | |
| ENST00000506869.5:c.*3107C>T | ENSP00000424319.1:n.*3107C>T | |
| ENST00000512095.5:n.2524C>T | ||
| ENST00000512534.5:n.91C>T | ||
| NM_025132.3:c.3526C>T | NP_079408.3:p.Leu1176Phe | |
| XM_011513724.1:c.3538C>T | XP_011512026.1:p.Leu1180Phe | |
| XM_011513725.1:c.3472C>T | XP_011512027.1:p.Leu1158Phe | |
| XM_011513726.1:c.3058C>T | XP_011512028.1:p.Leu1020Phe | |
| XM_011513727.1:c.3058C>T | XP_011512029.1:p.Leu1020Phe | |
| XM_011513728.1:c.3046C>T | XP_011512030.1:p.Leu1016Phe | |
| XR_925155.1:n.3602C>T | ||
| NM_001317924.1:c.3046C>T | NP_001304853.1:p.Leu1016Phe | |
| XM_011513725.2:c.3472C>T | XP_011512027.1:p.Leu1158Phe | |
| XM_011513726.3:c.3058C>T | XP_011512028.1:p.Leu1020Phe | |
| XM_017008501.1:c.3046C>T | XP_016863990.1:p.Leu1016Phe | |
| XR_001741306.1:n.3602C>T | ||
| XR_001741307.1:n.3590C>T | ||
| XR_001741308.1:n.3602C>T | ||
| XR_001741309.1:n.3590C>T | ||
| XR_001741310.1:n.3590C>T | ||
| XR_001741311.2:n.3439C>T | ||
| NM_025132.4:c.3526C>T MANE Select | NP_079408.3:p.Leu1176Phe | |
| NM_001317924.2:c.3046C>T | NP_001304853.1:p.Leu1016Phe |