Linked Data
dbSNP Id:
rs6850768
gnomAD v2:
4-113718900-C-T
gnomAD v3:
4-112797744-C-T
gnomAD v4:
4-112797744-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.112797744C>T , CM000666.2:g.112797744C>T | GRCh38 |
| NC_000004.11:g.113718900C>T , CM000666.1:g.113718900C>T | GRCh37 |
| NC_000004.10:g.113938349C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000503353.1:n.658G>A | ||
| NM_001354269.1:c.72+91527C>T | NP_001341198.1:n.72+91527C>T | |
| NM_001354269.3:c.72+91527C>T | NP_001341198.1:n.72+91527C>T | |
| NM_001386148.2:c.72+91527C>T | NP_001373077.1:n.72+91527C>T | |
| NM_001386186.2:c.72+91527C>T | NP_001373115.1:n.72+91527C>T | |
| NM_001386187.2:c.72+91527C>T | NP_001373116.1:n.72+91527C>T |