Linked Data
dbSNP Id:
rs1651625045
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.160127579C>T , CM000663.2:g.160127579C>T | GRCh38 |
| NC_000001.10:g.160097369C>T , CM000663.1:g.160097369C>T | GRCh37 |
| NC_000001.9:g.158363993C>T | NCBI36 |
| NG_008014.1:g.16822C>T , LRG_6:g.16822C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361216.8:c.776C>T MANE Select | ENSP00000354490.3:p.Thr259Ile | |
| ENST00000361216.7:c.776C>T | ENSP00000354490.3:p.Thr259Ile | |
| ENST00000392233.7:c.776C>T | ENSP00000376066.3:p.Thr259Ile | |
| ENST00000472488.5:n.879C>T | ||
| NM_000702.3:c.776C>T | NP_000693.1:p.Thr259Ile | |
| NM_000702.4:c.776C>T MANE Select | NP_000693.1:p.Thr259Ile |