HGVS | Genome Assembly |
---|---|
NC_000018.10:g.13884769G>C , CM000680.2:g.13884769G>C | GRCh38 |
NC_000018.9:g.13884768G>C , CM000680.1:g.13884768G>C | GRCh37 |
NC_000018.8:g.13874768G>C | NCBI36 |
NG_011819.1:g.35768C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000327606.4:c.750C>G MANE Select | ENSP00000333821.2:p.Tyr250Ter | |
ENST00000327606.3:c.750C>G | ENSP00000333821.2:p.Tyr250Ter | |
NM_000529.2:c.750C>G MANE Select | NP_000520.1:p.Tyr250Ter | |
NM_001291911.1:c.750C>G | NP_001278840.1:p.Tyr250Ter | |
XM_017025781.1:c.750C>G | XP_016881270.1:p.Tyr250Ter |