Linked Data
dbSNP Id:
rs1341320
gnomAD v2:
1-57966528-G-A
gnomAD v3:
1-57500856-G-A
gnomAD v4:
1-57500856-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.57500856G>A , CM000663.2:g.57500856G>A | GRCh38 |
| NC_000001.10:g.57966528G>A , CM000663.1:g.57966528G>A | GRCh37 |
| NC_000001.9:g.57739116G>A | NCBI36 |
| NG_046914.2:g.754692C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000485760.5:n.625+148736C>T | ||
| NM_021080.3:c.-137+148736C>T | NP_066566.3:n.-137+148736C>T | |
| NM_001353980.1:c.-137+148736C>T | NP_001340909.1:n.-137+148736C>T | |
| NM_021080.4:c.-137+148736C>T | NP_066566.3:n.-137+148736C>T | |
| NM_021080.5:c.-137+148736C>T | NP_066566.3:n.-137+148736C>T | |
| NM_001353980.2:c.-137+148736C>T | NP_001340909.1:n.-137+148736C>T | |
| NM_001379461.1:c.-137+148736C>T | NP_001366390.1:n.-137+148736C>T | |
| NM_001379462.1:c.-137+148736C>T | NP_001366391.1:n.-137+148736C>T |