Linked Data
ClinVar Variation Id:
2976959
ClinVar RCV Id:
RCV003839093
dbSNP Id:
rs370588248
ExAC:
1:115252358 G / A
gnomAD v2:
1-115252358-G-A
gnomAD v3:
1-114709737-G-A
gnomAD v4:
1-114709737-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114709737G>A , CM000663.2:g.114709737G>A | GRCh38 |
| NC_000001.10:g.115252358G>A , CM000663.1:g.115252358G>A | GRCh37 |
| NC_000001.9:g.115053881G>A | NCBI36 |
| NG_007572.1:g.12158C>T , LRG_92:g.12158C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369535.5:c.291-9C>T MANE Select | ENSP00000358548.4:n.291-9C>T | |
| ENST00000369535.4:c.291-9C>T | ENSP00000358548.4:n.291-9C>T | |
| NM_002524.4:c.291-9C>T | NP_002515.1:n.291-9C>T | |
| NM_002524.5:c.291-9C>T MANE Select | NP_002515.1:n.291-9C>T |