Linked Data
dbSNP Id:
rs1185043526
gnomAD v2:
8-16850341-G-A
gnomAD v3:
8-16992832-G-A
gnomAD v4:
8-16992832-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.16992832G>A , CM000670.2:g.16992832G>A | GRCh38 |
| NC_000008.10:g.16850341G>A , CM000670.1:g.16850341G>A | GRCh37 |
| NC_000008.9:g.16894712G>A | NCBI36 |
| NG_015978.1:g.14334C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000180166.6:c.*240C>T MANE Select | ENSP00000180166.5:n.*240C>T | |
| ENST00000180166.5:c.*240C>T | ENSP00000180166.5:n.*240C>T | |
| NM_019851.2:c.*240C>T | NP_062825.1:n.*240C>T | |
| NM_019851.3:c.*240C>T MANE Select | NP_062825.1:n.*240C>T |