Linked Data
ClinVar Variation Id:
372182
ClinVar RCV Id:
RCV000412576
dbSNP Id:
rs1057518742
PubMed:
PMID:26741492
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28845030A>T , CM000678.2:g.28845030A>T | GRCh38 |
| NC_000016.9:g.28856351A>T , CM000678.1:g.28856351A>T | GRCh37 |
| NC_000016.8:g.28763852A>T | NCBI36 |
| NG_008964.1:g.6379T>A | |
| NG_029706.2:g.3431A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000313511.8:c.440T>A MANE Select | ENSP00000322439.3:p.Leu147His | |
| ENST00000313511.7:c.440T>A | ENSP00000322439.3:p.Leu147His | |
| ENST00000565012.1:c.273T>A | ENSP00000455007.1:p.Pro91= | |
| NM_003321.4:c.440T>A | NP_003312.3:p.Leu147His | |
| XM_011545928.1:c.440T>A | XP_011544230.1:p.Leu147His | |
| NM_001365360.1:c.440T>A | NP_001352289.1:p.Leu147His | |
| NM_003321.5:c.440T>A MANE Select | NP_003312.3:p.Leu147His | |
| NM_001365360.2:c.440T>A | NP_001352289.1:p.Leu147His |