HGVS | Genome Assembly |
---|---|
NC_000001.11:g.46932769T>A , CM000663.2:g.46932769T>A | GRCh38 |
NC_000001.10:g.47398441T>A , CM000663.1:g.47398441T>A | GRCh37 |
NC_000001.9:g.47171028T>A | NCBI36 |
NG_007932.1:g.13716A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000310638.9:c.1356A>T MANE Select | ENSP00000311095.4:p.Gly452= | |
ENST00000310638.8:c.1356A>T | ENSP00000311095.4:p.Gly452= | |
ENST00000371904.8:c.1359A>T | ENSP00000360971.4:p.Gly453= | |
ENST00000371905.1:c.1356A>T | ENSP00000360972.1:p.Gly452= | |
ENST00000462347.5:c.1062A>T | ENSP00000477495.1:p.Gly354= | |
ENST00000465874.5:c.*154A>T | ENSP00000476368.1:n.*154A>T | |
ENST00000468629.5:c.*61A>T | ENSP00000476619.1:n.*61A>T | |
ENST00000474458.5:c.*61A>T | ENSP00000476988.1:n.*61A>T | |
ENST00000475477.5:c.*150A>T | ENSP00000476854.1:n.*150A>T | |
NM_000778.3:c.1356A>T | NP_000769.2:p.Gly452= | |
XM_005270539.1:c.1062A>T | XP_005270596.1:p.Gly354= | |
XM_011540826.1:c.1374A>T | XP_011539128.1:p.Gly458= | |
XM_011540827.1:c.1080A>T | XP_011539129.1:p.Gly360= | |
XM_011540828.1:c.1062A>T | XP_011539130.1:p.Gly354= | |
XR_246241.1:n.1260A>T | ||
XR_246242.1:n.1244A>T | ||
NM_001319155.1:c.1260A>T | NP_001306084.1:p.Gly420= | |
NM_001363587.1:c.1062A>T | NP_001350516.1:p.Gly354= | |
NR_134988.1:n.1061A>T | ||
NR_134989.1:n.1252A>T | ||
NR_134990.1:n.1246A>T | ||
NR_134991.1:n.1233A>T | ||
NR_134992.1:n.862A>T | ||
NR_134993.1:n.996A>T | ||
NR_134994.1:n.1268A>T | ||
XM_017000465.1:c.1044A>T | XP_016855954.1:p.Gly348= | |
XR_001737005.1:n.1334A>T | ||
NM_000778.4:c.1356A>T MANE Select | NP_000769.2:p.Gly452= | |
NM_001319155.2:c.1260A>T | NP_001306084.1:p.Gly420= | |
NM_001363587.2:c.1062A>T | NP_001350516.1:p.Gly354= | |
NR_134988.2:n.1053A>T | ||
NR_134989.2:n.1244A>T | ||
NR_134990.2:n.1238A>T | ||
NR_134991.2:n.1225A>T | ||
NR_134992.2:n.854A>T | ||
NR_134993.2:n.988A>T | ||
NR_134994.2:n.1260A>T |