HGVS | Genome Assembly |
---|---|
NC_000019.10:g.18787579G>C , CM000681.2:g.18787579G>C | GRCh38 |
NC_000019.9:g.18898388G>C , CM000681.1:g.18898388G>C | GRCh37 |
NC_000019.8:g.18759388G>C | NCBI36 |
NG_007070.1:g.8727C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000222271.7:c.1047C>G MANE Select | ENSP00000222271.2:p.Asp349Glu | |
ENST00000222271.6:c.1047C>G | ENSP00000222271.2:p.Asp349Glu | |
ENST00000425807.1:c.888C>G | ENSP00000403792.1:p.Asp296Glu | |
ENST00000542601.6:c.948C>G | ENSP00000439156.2:p.Asp316Glu | |
NM_000095.2:c.1047C>G | NP_000086.2:p.Asp349Glu | |
NM_000095.3:c.1047C>G MANE Select | NP_000086.2:p.Asp349Glu |