Linked Data
ClinVar Variation Id:
333044
ClinVar RCV Id:
RCV000361146
dbSNP Id:
rs41265577
gnomAD v3:
2-188974389-G-A
gnomAD v4:
2-188974389-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188974389G>A , CM000664.2:g.188974389G>A | GRCh38 |
| NC_000002.11:g.189839115G>A , CM000664.1:g.189839115G>A | GRCh37 |
| NC_000002.10:g.189547360G>A | NCBI36 |
| NG_007404.1:g.5017G>A , LRG_3:g.5017G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.-101G>A | ENSP00000415346.2:n.-101G>A | |
| ENST00000304636.9:c.-101G>A MANE Select | ENSP00000304408.4:n.-101G>A | |
| ENST00000304636.7:c.-101G>A | ENSP00000304408.3:n.-101G>A | |
| ENST00000317840.9:c.-101G>A | ENSP00000315243.6:n.-101G>A | |
| NM_000090.3:c.-101G>A , LRG_3t1:c.-101G>A | NP_000081.1:n.-101G>A | |
| XR_923687.1:n.1795-3910C>T | ||
| XR_923688.1:n.1795-3910C>T | ||
| XR_923689.1:n.90-3910C>T | ||
| XR_923689.3:n.85-3910C>T | ||
| NM_000090.4:c.-101G>A MANE Select | NP_000081.2:n.-101G>A |