Linked Data
ClinVar Variation Id:
431986
dbSNP Id:
rs1555767285
gnomAD v4:
19-41424436-A-G
PubMed:
PMID:19480318
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41424436A>G , CM000681.2:g.41424436A>G | GRCh38 |
| NC_000019.9:g.41930341A>G , CM000681.1:g.41930341A>G | GRCh37 |
| NC_000019.8:g.46622181A>G | NCBI36 |
| NG_013004.1:g.31648A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.1168-2A>G MANE Select | ENSP00000269980.2:n.1168-2A>G | |
| ENST00000269980.6:c.1168-2A>G | ENSP00000269980.2:n.1168-2A>G | |
| ENST00000457836.6:c.1177-2A>G | ENSP00000416000.2:n.1177-2A>G | |
| ENST00000540732.3:c.1270-2A>G | ENSP00000443246.1:n.1270-2A>G | |
| ENST00000544905.1:c.62-66A>G | ||
| ENST00000595085.5:c.922+1739A>G | ENSP00000471150.2:n.922+1739A>G | |
| NM_000709.3:c.1168-2A>G | NP_000700.1:n.1168-2A>G | |
| NM_001164783.1:c.1165-2A>G | NP_001158255.1:n.1165-2A>G | |
| NM_000709.4:c.1168-2A>G MANE Select | NP_000700.1:n.1168-2A>G | |
| NM_001164783.2:c.1165-2A>G | NP_001158255.1:n.1165-2A>G |