Linked Data
dbSNP Id:
rs4764478
gnomAD v2:
12-6078125-T-A
gnomAD v3:
12-5968959-T-A
gnomAD v4:
12-5968959-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5968959T>A , CM000674.2:g.5968959T>A | GRCh38 |
| NC_000012.11:g.6078125T>A , CM000674.1:g.6078125T>A | GRCh37 |
| NC_000012.10:g.5948386T>A | NCBI36 |
| NG_009072.1:g.160712A>T | |
| NG_009072.2:g.160712A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261405.10:c.7729+252A>T MANE Select | ENSP00000261405.5:n.7729+252A>T | |
| ENST00000261405.9:c.7729+252A>T | ENSP00000261405.5:n.7729+252A>T | |
| NM_000552.3:c.7729+252A>T | NP_000543.2:n.7729+252A>T | |
| NM_000552.4:c.7729+252A>T | NP_000543.2:n.7729+252A>T | |
| NM_000552.5:c.7729+252A>T MANE Select | NP_000543.3:n.7729+252A>T |