HGVS | Genome Assembly |
---|---|
NC_000004.12:g.88008254T>A , CM000666.2:g.88008254T>A | GRCh38 |
NC_000004.11:g.88929406T>A , CM000666.1:g.88929406T>A | GRCh37 |
NC_000004.10:g.89148430T>A | NCBI36 |
NG_008604.1:g.5587T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000237596.7:c.521T>A MANE Select | ENSP00000237596.2:p.Leu174Gln | |
ENST00000237596.6:c.521T>A | ENSP00000237596.2:p.Leu174Gln | |
ENST00000506727.1:n.23T>A | ||
NM_000297.3:c.521T>A | NP_000288.1:p.Leu174Gln | |
XM_011532028.1:c.521T>A | XP_011530330.1:p.Leu174Gln | |
XR_244632.2:n.616T>A | ||
NR_156488.1:n.608T>A | ||
XM_011532028.2:c.521T>A | XP_011530330.1:p.Leu174Gln | |
NM_000297.4:c.521T>A MANE Select | NP_000288.1:p.Leu174Gln | |
NR_156488.2:n.620T>A |