HGVS | Genome Assembly |
---|---|
NC_000008.11:g.19961033C>G , CM000670.2:g.19961033C>G | GRCh38 |
NC_000008.10:g.19818544C>G , CM000670.1:g.19818544C>G | GRCh37 |
NC_000008.9:g.19862824C>G | NCBI36 |
NG_008855.1:g.26963C>G | |
NG_008855.2:g.64317C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000650287.1:c.1272C>G MANE Select | ENSP00000497642.1:p.Pro424= | |
ENST00000650478.1:c.212C>G | ENSP00000497560.1:n.212C>G | |
ENST00000311322.8:c.1272C>G | ENSP00000309757.6:p.Pro424= | |
NM_000237.2:c.1272C>G | NP_000228.1:p.Pro424= | |
NM_000237.3:c.1272C>G MANE Select | NP_000228.1:p.Pro424= |