Linked Data
dbSNP Id:
rs965943193
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68429660C>T , CM000663.2:g.68429660C>T | GRCh38 |
| NC_000001.10:g.68895343C>T , CM000663.1:g.68895343C>T | GRCh37 |
| NC_000001.9:g.68667931C>T | NCBI36 |
| NG_008472.1:g.25300G>A | |
| NG_008472.2:g.25300G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.*116G>A MANE Select | ENSP00000262340.5:n.*116G>A | |
| ENST00000262340.5:c.*116G>A | ENSP00000262340.5:n.*116G>A | |
| NM_000329.2:c.*116G>A | NP_000320.1:n.*116G>A | |
| XM_017002027.1:c.*116G>A | XP_016857516.1:n.*116G>A | |
| NM_000329.3:c.*116G>A MANE Select | NP_000320.1:n.*116G>A |