HGVS | Genome Assembly |
---|---|
NC_000022.11:g.32104842T>G , CM000684.2:g.32104842T>G | GRCh38 |
NC_000022.10:g.32500829T>G , CM000684.1:g.32500829T>G | GRCh37 |
NC_000022.9:g.30830829T>G | NCBI36 |
NG_017045.1:g.66811T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000266088.9:c.1722T>G MANE Select | ENSP00000266088.4:p.Asp574Glu | |
ENST00000266088.8:c.1722T>G | ENSP00000266088.4:p.Asp574Glu | |
ENST00000543737.2:c.1341T>G | ENSP00000444898.1:p.Asp447Glu | |
NM_000343.3:c.1722T>G | NP_000334.1:p.Asp574Glu | |
NM_001256314.1:c.1341T>G | NP_001243243.1:p.Asp447Glu | |
XR_938173.1:n.591+1996A>C | ||
XR_938174.1:n.486+15013A>C | ||
NM_000343.4:c.1722T>G MANE Select | NP_000334.1:p.Asp574Glu | |
NM_001256314.2:c.1341T>G | NP_001243243.1:p.Asp447Glu |