Linked Data
ClinVar Variation Id:
1567851
ClinVar RCV Id:
RCV002215042
dbSNP Id:
rs762586699
ExAC:
2:113820017 C / A
gnomAD v2:
2-113820017-C-A
gnomAD v4:
2-113062440-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.113062440C>A , CM000664.2:g.113062440C>A | GRCh38 |
| NC_000002.11:g.113820017C>A , CM000664.1:g.113820017C>A | GRCh37 |
| NC_000002.10:g.113536488C>A | NCBI36 |
| NG_031864.1:g.8803C>A , LRG_730:g.8803C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000437409.2:c.244-13C>A | ENSP00000409262.2:n.244-13C>A | |
| ENST00000393200.7:c.244-13C>A MANE Select | ENSP00000376896.2:n.244-13C>A | |
| ENST00000346807.7:c.244-13C>A | ENSP00000259212.3:n.244-13C>A | |
| ENST00000393200.6:c.244-13C>A | ENSP00000376896.2:n.244-13C>A | |
| ENST00000437409.1:c.244-13C>A | ENSP00000409262.1:n.244-13C>A | |
| NM_012275.2:c.244-13C>A , LRG_730t2:c.244-13C>A | NP_036407.1:n.244-13C>A | |
| NM_173170.1:c.244-13C>A , LRG_730t1:c.244-13C>A | NP_775262.1:n.244-13C>A | |
| NM_012275.3:c.244-13C>A MANE Select | NP_036407.1:n.244-13C>A |