HGVS | Genome Assembly |
---|---|
NC_000010.11:g.104034097C>T , CM000672.2:g.104034097C>T | GRCh38 |
NC_000010.10:g.105793855C>T , CM000672.1:g.105793855C>T | GRCh37 |
NC_000010.9:g.105783845C>T | NCBI36 |
NG_007069.1:g.56784G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000369733.8:c.3758G>A | ENSP00000358748.3:p.Gly1253Asp | |
ENST00000647647.1:c.34G>A | ||
ENST00000648076.2:c.4004G>A MANE Select | ENSP00000497653.1:p.Gly1335Asp | |
ENST00000353479.9:c.4004G>A | ENSP00000340937.5:p.Gly1335Asp | |
ENST00000369733.7:c.3758G>A | ENSP00000358748.3:p.Gly1253Asp | |
NM_000494.3:c.4004G>A | NP_000485.3:p.Gly1335Asp | |
NM_000494.4:c.4004G>A MANE Select | NP_000485.3:p.Gly1335Asp |