Linked Data
dbSNP Id:
rs16918958
gnomAD v2:
9-33036928-C-A
gnomAD v3:
9-33036930-C-A
gnomAD v4:
9-33036930-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.33036930C>A , CM000671.2:g.33036930C>A | GRCh38 |
| NC_000009.11:g.33036928C>A , CM000671.1:g.33036928C>A | GRCh37 |
| NC_000009.10:g.33026928C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000330899.5:c.875-85C>A MANE Select | ENSP00000369127.3:n.875-85C>A | |
| ENST00000330899.4:c.875-85C>A | ENSP00000369127.3:n.875-85C>A | |
| ENST00000465677.1:n.188-85C>A | ||
| ENST00000495015.5:n.462-85C>A | ||
| NM_001314039.1:c.404-85C>A | NP_001300968.1:n.404-85C>A | |
| NM_001539.2:c.875-85C>A | NP_001530.1:n.875-85C>A | |
| NM_001539.3:c.875-85C>A | NP_001530.1:n.875-85C>A | |
| NM_001539.4:c.875-85C>A MANE Select | NP_001530.1:n.875-85C>A | |
| NM_001314039.2:c.404-85C>A | NP_001300968.1:n.404-85C>A |