Linked Data
ClinVar Variation Id:
475227
ClinVar RCV Id:
RCV001577749
dbSNP Id:
rs56387546
ExAC:
8:48798687 G / A
gnomAD v2:
8-48798687-G-A
gnomAD v3:
8-47886126-G-A
gnomAD v4:
8-47886126-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.47886126G>A , CM000670.2:g.47886126G>A | GRCh38 |
| NC_000008.10:g.48798687G>A , CM000670.1:g.48798687G>A | GRCh37 |
| NC_000008.9:g.48961240G>A | NCBI36 |
| NG_023435.1:g.79058C>T , LRG_162:g.79058C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000314191.7:c.4594C>T MANE Select | ENSP00000313420.3:p.Leu1532Phe | |
| ENST00000314191.6:c.4594C>T | ENSP00000313420.3:p.Leu1532Phe | |
| ENST00000338368.7:c.4594C>T | ENSP00000345182.4:p.Leu1532Phe | |
| NM_001081640.1:c.4594C>T | NP_001075109.1:p.Leu1532Phe | |
| NM_006904.6:c.4594C>T , LRG_162t1:c.4594C>T | NP_008835.5:p.Leu1532Phe | |
| XM_011517567.1:c.4594C>T | XP_011515869.1:p.Leu1532Phe | |
| XM_011517568.1:c.4594C>T | XP_011515870.1:p.Leu1532Phe | |
| NM_001081640.2:c.4594C>T | NP_001075109.1:p.Leu1532Phe | |
| NM_006904.7:c.4594C>T MANE Select | NP_008835.5:p.Leu1532Phe |