HGVS | Genome Assembly |
---|---|
NC_000003.12:g.190404913G>T , CM000665.2:g.190404913G>T | GRCh38 |
NC_000003.11:g.190122702G>T , CM000665.1:g.190122702G>T | GRCh37 |
NC_000003.10:g.191605396G>T | NCBI36 |
NG_008149.1:g.21862G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264734.3:c.369G>T MANE Select | ENSP00000264734.3:p.Thr123= | |
ENST00000456423.2:c.115-4990G>T | ENSP00000414136.2:n.115-4990G>T | |
ENST00000264734.2:c.579G>T | ENSP00000264734.2:p.Thr193= | |
ENST00000456423.1:c.325-4990G>T | ENSP00000414136.1:n.325-4990G>T | |
ENST00000468220.1:n.561G>T | ||
NM_006580.3:c.579G>T | NP_006571.1:p.Thr193= | |
NM_001378492.1:c.369G>T | NP_001365421.1:p.Thr123= | |
NM_001378493.1:c.369G>T | NP_001365422.1:p.Thr123= | |
NM_006580.4:c.369G>T MANE Select | NP_006571.2:p.Thr123= |