Linked Data
ClinVar Variation Id:
190749
ClinVar RCV Id:
RCV000170897
dbSNP Id:
rs747077051
gnomAD v3:
1-115768532-T-A
gnomAD v4:
1-115768532-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115768532T>A , CM000663.2:g.115768532T>A | GRCh38 |
| NC_000001.10:g.116311153T>A , CM000663.1:g.116311153T>A | GRCh37 |
| NC_000001.9:g.116112676T>A | NCBI36 |
| NG_008802.1:g.5274A>T , LRG_404:g.5274A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000488931.2:c.-223-44A>T | ENSP00000518226.1:n.-223-44A>T | |
| ENST00000261448.6:c.10A>T MANE Select | ENSP00000261448.5:p.Thr4Ser | |
| ENST00000261448.5:c.10A>T | ENSP00000261448.5:p.Thr4Ser | |
| NM_001232.3:c.10A>T , LRG_404t1:c.10A>T | NP_001223.2:p.Thr4Ser | |
| NM_001232.4:c.10A>T MANE Select | NP_001223.2:p.Thr4Ser |