Linked Data
ClinVar Variation Id:
297251
dbSNP Id:
rs41301070
gnomAD v2:
1-40563019-G-T
gnomAD v3:
1-40097347-G-T
gnomAD v4:
1-40097347-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40097347G>T , CM000663.2:g.40097347G>T | GRCh38 |
| NC_000001.10:g.40563019G>T , CM000663.1:g.40563019G>T | GRCh37 |
| NC_000001.9:g.40335606G>T | NCBI36 |
| NG_009192.1:g.5124C>A , LRG_690:g.5124C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433473.7:c.-109C>A | ENSP00000394863.3:n.-109C>A | |
| NM_000310.3:c.-109C>A , LRG_690t1:c.-109C>A | NP_000301.1:n.-109C>A | |
| NM_001142604.1:c.-109C>A | NP_001136076.1:n.-109C>A | |
| NM_001363695.1:c.-109C>A | NP_001350624.1:n.-109C>A |