Linked Data
dbSNP Id:
rs944238856
gnomAD v2:
6-31531265-A-T
gnomAD v3:
6-31563488-A-T
gnomAD v4:
6-31563488-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31563488A>T , CM000668.2:g.31563488A>T | GRCh38 |
| NC_000006.11:g.31531265A>T , CM000668.1:g.31531265A>T | GRCh37 |
| NC_000006.10:g.31639244A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_011514614.1:c.-342+2219A>T | XP_011512916.1:n.-342+2219A>T | |
| XM_011514615.1:c.-342+1021A>T | XP_011512917.1:n.-342+1021A>T | |
| XM_011514616.1:c.-178+2219A>T | XP_011512918.1:n.-178+2219A>T | |
| XM_011514617.1:c.-342+2219A>T | XP_011512919.1:n.-342+2219A>T | |
| XM_011514618.1:c.-342+2219A>T | XP_011512920.1:n.-342+2219A>T | |
| XR_926695.1:n.116+9095T>A | ||
| NR_149045.1:n.122-2766T>A | ||
| XM_011514615.2:c.-342+1021A>T | XP_011512917.1:n.-342+1021A>T | |
| XM_011514616.2:c.-178+2219A>T | XP_011512918.1:n.-178+2219A>T | |
| XM_011514617.2:c.-342+2219A>T | XP_011512919.1:n.-342+2219A>T |