Linked Data
ClinVar Variation Id:
310044
ClinVar RCV Id:
RCV000361746
dbSNP Id:
rs144769404
ExAC:
12:6092390 G / A
gnomAD v2:
12-6092390-G-A
gnomAD v3:
12-5983224-G-A
gnomAD v4:
12-5983224-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5983224G>A , CM000674.2:g.5983224G>A | GRCh38 |
| NC_000012.11:g.6092390G>A , CM000674.1:g.6092390G>A | GRCh37 |
| NC_000012.10:g.5962651G>A | NCBI36 |
| NG_009072.1:g.146447C>T | |
| NG_009072.2:g.146447C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.7007C>T MANE Select | ENSP00000261405.5:p.Pro2336Leu | |
| ENST00000261405.9:c.7007C>T | ENSP00000261405.5:p.Pro2336Leu | |
| NM_000552.3:c.7007C>T | NP_000543.2:p.Pro2336Leu | |
| NM_000552.4:c.7007C>T | NP_000543.2:p.Pro2336Leu | |
| NM_000552.5:c.7007C>T MANE Select | NP_000543.3:p.Pro2336Leu |