Linked Data
dbSNP Id:
rs1481280292
gnomAD v2:
1-173886486-G-A
gnomAD v3:
1-173917348-G-A
gnomAD v4:
1-173917348-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173917348G>A , CM000663.2:g.173917348G>A | GRCh38 |
| NC_000001.10:g.173886486G>A , CM000663.1:g.173886486G>A | GRCh37 |
| NC_000001.9:g.172153109G>A | NCBI36 |
| NG_012462.1:g.5031C>T , LRG_577:g.5031C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.3:c.-89C>T | ENSP00000356671.3:n.-89C>T | |
| ENST00000617423.4:c.-89C>T | ENSP00000478688.1:n.-89C>T | |
| NM_000488.3:c.-89C>T , LRG_577t1:c.-89C>T | NP_000479.1:n.-89C>T |