Linked Data
dbSNP Id:
rs906014700
gnomAD v2:
18-48604921-C-T
gnomAD v3:
18-51078551-C-T
gnomAD v4:
18-51078551-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.51078551C>T , CM000680.2:g.51078551C>T | GRCh38 |
| NC_000018.9:g.48604921C>T , CM000680.1:g.48604921C>T | GRCh37 |
| NC_000018.8:g.46858919C>T | NCBI36 |
| NG_013013.2:g.115512C>T , LRG_318:g.115512C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588860.6:c.*84C>T | ENSP00000465878.2:n.*84C>T | |
| ENST00000589076.6:c.*84C>T | ENSP00000466934.2:n.*84C>T | |
| ENST00000589941.2:c.*84C>T | ENSP00000465874.2:n.*84C>T | |
| ENST00000590061.2:c.*84C>T | ENSP00000464772.2:n.*84C>T | |
| ENST00000593223.2:c.*1740C>T | ENSP00000466118.2:n.*1740C>T | |
| ENST00000611848.2:c.*395C>T | ENSP00000478613.2:n.*395C>T | |
| ENST00000684953.1:n.3758C>T | ||
| ENST00000685090.1:n.3673C>T | ||
| ENST00000685232.1:n.1964C>T | ||
| ENST00000688574.1:n.1851C>T | ||
| ENST00000691124.1:n.4704C>T | ||
| ENST00000342988.8:c.*84C>T MANE Select | ENSP00000341551.3:n.*84C>T | |
| ENST00000342988.7:c.*84C>T | ENSP00000341551.3:n.*84C>T | |
| ENST00000398417.6:c.*84C>T | ENSP00000381452.1:n.*84C>T | |
| ENST00000586253.1:n.465C>T | ||
| ENST00000591126.5:n.3744C>T | ||
| ENST00000611848.1:c.1056C>T | ||
| NM_005359.5:c.*84C>T , LRG_318t1:c.*84C>T | NP_005350.1:n.*84C>T | |
| NM_005359.6:c.*84C>T MANE Select | NP_005350.1:n.*84C>T |