Linked Data
ClinVar Variation Id:
56507
dbSNP Id:
rs386833945
ExAC:
19:36341889 G / A
gnomAD v2:
19-36341889-G-A
gnomAD v4:
19-35850987-G-A
PubMed:
PMID:20172850
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35850987G>A , CM000681.2:g.35850987G>A | GRCh38 |
| NC_000019.9:g.36341889G>A , CM000681.1:g.36341889G>A | GRCh37 |
| NC_000019.8:g.41033729G>A | NCBI36 |
| NG_013356.2:g.23301C>T , LRG_693:g.23301C>T | |
| NG_051206.1:g.4353G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378910.10:c.500C>T MANE Select | ENSP00000368190.4:p.Pro167Leu | |
| ENST00000353632.6:c.500C>T | ENSP00000343634.5:p.Pro167Leu | |
| ENST00000378910.9:c.500C>T | ENSP00000368190.4:p.Pro167Leu | |
| NM_004646.3:c.500C>T , LRG_693t1:c.500C>T | NP_004637.1:p.Pro167Leu | |
| NM_004646.4:c.500C>T MANE Select | NP_004637.1:p.Pro167Leu |