Linked Data
dbSNP Id:
rs10062367
gnomAD v2:
5-76264354-G-A
gnomAD v3:
5-76968529-G-A
gnomAD v4:
5-76968529-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.76968529G>A , CM000667.2:g.76968529G>A | GRCh38 |
| NC_000005.9:g.76264354G>A , CM000667.1:g.76264354G>A | GRCh37 |
| NC_000005.8:g.76300110G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274368.9:c.812-199G>A MANE Select | ENSP00000274368.4:n.812-199G>A | |
| ENST00000274368.8:c.812-199G>A | ENSP00000274368.4:n.812-199G>A | |
| ENST00000503763.1:n.227-199G>A | ||
| ENST00000514258.1:n.311+5069G>A | ||
| NM_001882.3:c.812-199G>A | NP_001873.2:n.812-199G>A | |
| XR_948235.1:n.1111+5069G>A | ||
| XR_948235.3:n.1091+5069G>A | ||
| NM_001882.4:c.812-199G>A MANE Select | NP_001873.2:n.812-199G>A |