Linked Data
dbSNP Id:
rs8069770
gnomAD v2:
17-13477166-G-A
gnomAD v3:
17-13573849-G-A
gnomAD v4:
17-13573849-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.13573849G>A , CM000679.2:g.13573849G>A | GRCh38 |
| NC_000017.10:g.13477166G>A , CM000679.1:g.13477166G>A | GRCh37 |
| NC_000017.9:g.13417891G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000284110.2:c.599+26682C>T MANE Select | ENSP00000284110.1:n.599+26682C>T | |
| ENST00000284110.1:c.599+26682C>T | ENSP00000284110.1:n.599+26682C>T | |
| NM_006042.2:c.599+26682C>T | NP_006033.1:n.599+26682C>T | |
| NM_006042.3:c.599+26682C>T MANE Select | NP_006033.1:n.599+26682C>T |