HGVS | Genome Assembly |
---|---|
NC_000019.10:g.18787630C>G , CM000681.2:g.18787630C>G | GRCh38 |
NC_000019.9:g.18898439C>G , CM000681.1:g.18898439C>G | GRCh37 |
NC_000019.8:g.18759439C>G | NCBI36 |
NG_007070.1:g.8676G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000222271.7:c.996G>C MANE Select | ENSP00000222271.2:p.Arg332= | |
ENST00000222271.6:c.996G>C | ENSP00000222271.2:p.Arg332= | |
ENST00000425807.1:c.837G>C | ENSP00000403792.1:p.Arg279= | |
ENST00000542601.6:c.897G>C | ENSP00000439156.2:p.Arg299= | |
NM_000095.2:c.996G>C | NP_000086.2:p.Arg332= | |
NM_000095.3:c.996G>C MANE Select | NP_000086.2:p.Arg332= |