HGVS | Genome Assembly |
---|---|
NC_000010.11:g.104053082C>G , CM000672.2:g.104053082C>G | GRCh38 |
NC_000010.10:g.105812840C>G , CM000672.1:g.105812840C>G | GRCh37 |
NC_000010.9:g.105802830C>G | NCBI36 |
NG_007069.1:g.37799G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000369733.8:c.1888G>C | ENSP00000358748.3:p.Gly630Arg | |
ENST00000648076.2:c.1888G>C MANE Select | ENSP00000497653.1:p.Gly630Arg | |
ENST00000353479.9:c.1888G>C | ENSP00000340937.5:p.Gly630Arg | |
ENST00000369733.7:c.1888G>C | ENSP00000358748.3:p.Gly630Arg | |
NM_000494.3:c.1888G>C | NP_000485.3:p.Gly630Arg | |
NM_000494.4:c.1888G>C MANE Select | NP_000485.3:p.Gly630Arg |