Linked Data
ClinVar Variation Id:
2158031
ClinVar RCV Id:
RCV003069555
dbSNP Id:
rs1430902920
gnomAD v2:
1-115252360-G-T
gnomAD v4:
1-114709739-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114709739G>T , CM000663.2:g.114709739G>T | GRCh38 |
| NC_000001.10:g.115252360G>T , CM000663.1:g.115252360G>T | GRCh37 |
| NC_000001.9:g.115053883G>T | NCBI36 |
| NG_007572.1:g.12156C>A , LRG_92:g.12156C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369535.5:c.291-11C>A MANE Select | ENSP00000358548.4:n.291-11C>A | |
| ENST00000369535.4:c.291-11C>A | ENSP00000358548.4:n.291-11C>A | |
| NM_002524.4:c.291-11C>A | NP_002515.1:n.291-11C>A | |
| NM_002524.5:c.291-11C>A MANE Select | NP_002515.1:n.291-11C>A |