Linked Data
dbSNP Id:
rs1302812822
gnomAD v2:
8-16850406-T-C
gnomAD v3:
8-16992897-T-C
gnomAD v4:
8-16992897-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.16992897T>C , CM000670.2:g.16992897T>C | GRCh38 |
| NC_000008.10:g.16850406T>C , CM000670.1:g.16850406T>C | GRCh37 |
| NC_000008.9:g.16894777T>C | NCBI36 |
| NG_015978.1:g.14269A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000180166.6:c.*175A>G MANE Select | ENSP00000180166.5:n.*175A>G | |
| ENST00000180166.5:c.*175A>G | ENSP00000180166.5:n.*175A>G | |
| NM_019851.2:c.*175A>G | NP_062825.1:n.*175A>G | |
| NM_019851.3:c.*175A>G MANE Select | NP_062825.1:n.*175A>G |