HGVS | Genome Assembly |
---|---|
NC_000004.12:g.88008255G>A , CM000666.2:g.88008255G>A | GRCh38 |
NC_000004.11:g.88929407G>A , CM000666.1:g.88929407G>A | GRCh37 |
NC_000004.10:g.89148431G>A | NCBI36 |
NG_008604.1:g.5588G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000237596.7:c.522G>A MANE Select | ENSP00000237596.2:p.Leu174= | |
ENST00000237596.6:c.522G>A | ENSP00000237596.2:p.Leu174= | |
ENST00000506727.1:n.24G>A | ||
NM_000297.3:c.522G>A | NP_000288.1:p.Leu174= | |
XM_011532028.1:c.522G>A | XP_011530330.1:p.Leu174= | |
XR_244632.2:n.617G>A | ||
NR_156488.1:n.609G>A | ||
XM_011532028.2:c.522G>A | XP_011530330.1:p.Leu174= | |
NM_000297.4:c.522G>A MANE Select | NP_000288.1:p.Leu174= | |
NR_156488.2:n.621G>A |