Linked Data
dbSNP Id:
rs1249311541
gnomAD v2:
15-29888348-G-A
gnomAD v3:
15-29596144-G-A
gnomAD v4:
15-29596144-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.29596144G>A , CM000677.2:g.29596144G>A | GRCh38 |
| NC_000015.9:g.29888348G>A , CM000677.1:g.29888348G>A | GRCh37 |
| NC_000015.8:g.27675640G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_001387215.1:c.-70+78955C>T | NP_001374144.1:n.-70+78955C>T | |
| NM_001387216.1:c.-70+78955C>T | NP_001374145.1:n.-70+78955C>T | |
| NM_001387217.1:c.-70+78955C>T | NP_001374146.1:n.-70+78955C>T |