HGVS | Genome Assembly |
---|---|
NC_000012.12:g.71994507A>T , CM000674.2:g.71994507A>T | GRCh38 |
NC_000012.11:g.72388287A>T , CM000674.1:g.72388287A>T | GRCh37 |
NC_000012.10:g.70674554A>T | NCBI36 |
NG_008279.1:g.60662A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000333850.4:c.1010A>T MANE Select | ENSP00000329093.3:p.Gln337Leu | |
ENST00000333850.3:c.1010A>T | ENSP00000329093.3:p.Gln337Leu | |
NM_173353.3:c.1010A>T | NP_775489.2:p.Gln337Leu | |
XM_011537899.1:c.416A>T | XP_011536201.1:p.Gln139Leu | |
NM_173353.4:c.1010A>T MANE Select | NP_775489.2:p.Gln337Leu |