Linked Data
dbSNP Id:
rs4763879
gnomAD v2:
12-9910164-G-A
gnomAD v3:
12-9757568-G-A
gnomAD v4:
12-9757568-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.9757568G>A , CM000674.2:g.9757568G>A | GRCh38 |
| NC_000012.11:g.9910164G>A , CM000674.1:g.9910164G>A | GRCh37 |
| NC_000012.10:g.9801431G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000228434.7:c.65-1149C>T MANE Select | ENSP00000228434.3:n.65-1149C>T | |
| ENST00000416624.6:n.146-1149C>T | ||
| ENST00000536709.1:c.65-1149C>T | ENSP00000442597.1:n.65-1149C>T | |
| ENST00000543147.1:n.146-1149C>T | ||
| NM_001781.2:c.65-1149C>T MANE Select | NP_001772.1:n.65-1149C>T |