HGVS | Genome Assembly |
---|---|
NC_000005.10:g.14716824C>G , CM000667.2:g.14716824C>G | GRCh38 |
NC_000005.9:g.14716933C>G , CM000667.1:g.14716933C>G | GRCh37 |
NC_000005.8:g.14769933C>G | NCBI36 |
NG_008273.1:g.159955G>C | |
NG_008273.2:g.159962G>C | |
NG_051625.1:g.61031C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000284268.8:c.1023G>C MANE Select | ENSP00000284268.6:p.Val341= | |
ENST00000284268.6:c.1023G>C | ENSP00000284268.6:p.Val341= | |
ENST00000502585.1:n.265G>C | ||
NM_054027.4:c.1023G>C | NP_473368.1:p.Val341= | |
NM_054027.5:c.1023G>C | NP_473368.1:p.Val341= | |
XM_017009644.2:c.939G>C | XP_016865133.1:p.Val313= | |
NM_054027.6:c.1023G>C MANE Select | NP_473368.1:p.Val341= |