HGVS | Genome Assembly |
---|---|
NC_000006.12:g.10874765G>C , CM000668.2:g.10874765G>C | GRCh38 |
NC_000006.11:g.10874998G>C , CM000668.1:g.10874998G>C | GRCh37 |
NC_000006.10:g.10982984G>C | NCBI36 |
NG_008970.1:g.12101C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000379491.5:c.751C>G MANE Select | ENSP00000368805.4:p.Gln251Glu | |
ENST00000379491.4:c.751C>G | ENSP00000368805.4:p.Gln251Glu | |
ENST00000480294.1:c.101-16748G>C | ENSP00000417929.1:n.101-16748G>C | |
NM_004752.3:c.751C>G | NP_004743.1:p.Gln251Glu | |
XM_011514991.1:c.751C>G | XP_011513293.1:p.Gln251Glu | |
NM_004752.4:c.751C>G MANE Select | NP_004743.1:p.Gln251Glu |