Linked Data
dbSNP Id:
rs545086067
gnomAD v2:
8-25892050-G-A
gnomAD v3:
8-26034534-G-A
gnomAD v4:
8-26034534-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.26034534G>A , CM000670.2:g.26034534G>A | GRCh38 |
| NC_000008.10:g.25892050G>A , CM000670.1:g.25892050G>A | GRCh37 |
| NC_000008.9:g.25947967G>A | NCBI36 |
| NG_030344.1:g.15591C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000520164.6:c.483-1381C>T MANE Select | ENSP00000430241.1:n.483-1381C>T | |
| ENST00000408929.7:c.39-1381C>T | ENSP00000386178.3:n.39-1381C>T | |
| ENST00000517825.1:n.802-1381C>T | ||
| ENST00000520164.5:c.483-1381C>T | ENSP00000430241.1:n.483-1381C>T | |
| NM_022659.3:c.483-1381C>T | NP_073150.2:n.483-1381C>T | |
| NM_022659.4:c.483-1381C>T MANE Select | NP_073150.2:n.483-1381C>T |