HGVS | Genome Assembly |
---|---|
NC_000013.11:g.48459748C>A , CM000675.2:g.48459748C>A | GRCh38 |
NC_000013.10:g.49033884C>A , CM000675.1:g.49033884C>A | GRCh37 |
NC_000013.9:g.47931885C>A | NCBI36 |
NG_009009.1:g.161002C>A , LRG_517:g.161002C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000267163.6:c.2021C>A MANE Select | ENSP00000267163.4:p.Pro674Gln | |
ENST00000643064.1:c.194+78305C>A | ||
ENST00000650461.1:c.2021C>A | ENSP00000497193.1:p.Pro674Gln | |
ENST00000267163.4:c.2021C>A | ENSP00000267163.4:p.Pro674Gln | |
NM_000321.2:c.2021C>A , LRG_517t1:c.2021C>A | NP_000312.2:p.Pro674Gln | |
XM_011535171.1:c.1760C>A | XP_011533473.1:p.Pro587Gln | |
XM_011535171.2:c.1760C>A | XP_011533473.1:p.Pro587Gln | |
NM_000321.3:c.2021C>A MANE Select | NP_000312.2:p.Pro674Gln |