Linked Data
ClinVar Variation Id:
402143
ClinVar RCV Id:
RCV000454155
dbSNP Id:
rs748016594
PubMed:
PMID:26539891
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.69426090T>A , CM000677.2:g.69426090T>A | GRCh38 |
| NC_000015.9:g.69718429T>A , CM000677.1:g.69718429T>A | GRCh37 |
| NC_000015.8:g.67505483T>A | NCBI36 |
| NG_042269.1:g.16845T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260363.9:c.755T>A | ENSP00000260363.4:p.Leu252His | |
| ENST00000559279.6:c.797T>A | ENSP00000453386.2:p.Leu266His | |
| ENST00000643966.1:c.755T>A | ENSP00000494167.1:p.Leu252His | |
| ENST00000647715.1:c.755T>A | ENSP00000497065.1:p.Leu252His | |
| ENST00000679126.1:c.797T>A MANE Select | ENSP00000504770.1:p.Leu266His | |
| ENST00000260363.8:c.755T>A | ENSP00000260363.4:p.Leu252His | |
| ENST00000352331.8:c.755T>A | ENSP00000304978.6:p.Leu252His | |
| ENST00000395392.6:c.755T>A | ENSP00000378790.2:p.Leu252His | |
| ENST00000558346.5:c.797T>A | ENSP00000453576.1:p.Leu266His | |
| ENST00000558585.5:c.206T>A | ENSP00000453102.1:p.Leu69His | |
| ENST00000559279.5:c.755T>A | ENSP00000453386.1:p.Leu252His | |
| ENST00000559283.1:c.164T>A | ENSP00000452901.1:p.Leu55His | |
| ENST00000559456.1:n.216T>A | ||
| ENST00000561089.5:c.*288T>A | ENSP00000453629.1:n.*288T>A | |
| NM_001281301.1:c.425T>A | NP_001268230.1:p.Leu142His | |
| NM_004856.6:c.755T>A | NP_004847.2:p.Leu252His | |
| NM_138555.3:c.755T>A | NP_612565.1:p.Leu252His | |
| XM_005254796.2:c.797T>A | XP_005254853.1:p.Leu266His | |
| XM_005254797.2:c.797T>A | XP_005254854.1:p.Leu266His | |
| XM_005254798.2:c.797T>A | XP_005254855.1:p.Leu266His | |
| XM_005254799.2:c.797T>A | XP_005254856.1:p.Leu266His | |
| XM_011522238.1:c.467T>A | XP_011520540.1:p.Leu156His | |
| XM_011522239.1:c.392T>A | XP_011520541.1:p.Leu131His | |
| NM_138555.4:c.755T>A | NP_612565.1:p.Leu252His | |
| XM_005254796.3:c.797T>A | XP_005254853.1:p.Leu266His | |
| XM_005254797.3:c.797T>A | XP_005254854.1:p.Leu266His | |
| XM_005254798.3:c.797T>A | XP_005254855.1:p.Leu266His | |
| XM_005254799.3:c.797T>A | XP_005254856.1:p.Leu266His | |
| XM_011522238.2:c.467T>A | XP_011520540.1:p.Leu156His | |
| XM_011522239.3:c.392T>A | XP_011520541.1:p.Leu131His | |
| XM_017022733.2:c.797T>A | XP_016878222.1:p.Leu266His | |
| XM_024450110.1:c.425T>A | XP_024305878.1:p.Leu142His | |
| NM_001367804.1:c.755T>A | NP_001354733.1:p.Leu252His | |
| NM_001367805.1:c.797T>A | NP_001354734.1:p.Leu266His | |
| NR_160295.1:n.914T>A | ||
| NR_160296.1:n.914T>A | ||
| NM_001281301.2:c.425T>A | NP_001268230.1:p.Leu142His | |
| NM_001367804.2:c.755T>A | NP_001354733.1:p.Leu252His | |
| NM_001367805.2:c.797T>A | NP_001354734.1:p.Leu266His | |
| NM_004856.7:c.755T>A | NP_004847.2:p.Leu252His | |
| NR_160295.2:n.914T>A | ||
| NR_160296.2:n.914T>A | ||
| NM_001367805.3:c.797T>A MANE Select | NP_001354734.1:p.Leu266His |