HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57766011T>C , CM000674.2:g.57766011T>C | GRCh38 |
NC_000012.11:g.58159794T>C , CM000674.1:g.58159794T>C | GRCh37 |
NC_000012.10:g.56446061T>C | NCBI36 |
NG_007076.1:g.6183A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000546609.2:n.294A>G | ||
ENST00000713544.1:c.382A>G | ENSP00000518840.1:p.Thr128Ala | |
ENST00000713545.1:c.382A>G | ENSP00000518841.1:p.Thr128Ala | |
ENST00000228606.9:c.382A>G MANE Select | ENSP00000228606.4:p.Thr128Ala | |
ENST00000228606.8:c.382A>G | ENSP00000228606.4:p.Thr128Ala | |
ENST00000546496.1:n.210A>G | ||
ENST00000546609.1:c.294A>G | ||
ENST00000547344.5:n.436A>G | ||
ENST00000552186.1:n.501A>G | ||
NM_000785.3:c.382A>G | NP_000776.1:p.Thr128Ala | |
NM_000785.4:c.382A>G MANE Select | NP_000776.1:p.Thr128Ala |