HGVS | Genome Assembly |
---|---|
NC_000020.11:g.35437580C>A , CM000682.2:g.35437580C>A | GRCh38 |
NC_000020.10:g.34025360C>A , CM000682.1:g.34025360C>A | GRCh37 |
NC_000020.9:g.33488774C>A | NCBI36 |
NG_008076.2:g.5640G>T | |
NG_008076.3:g.22167G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000374369.8:c.349G>T MANE Select | ENSP00000363489.3:p.Ala117Ser | |
ENST00000374369.7:c.349G>T | ENSP00000363489.3:p.Ala117Ser | |
ENST00000374372.1:c.349G>T | ENSP00000363492.1:p.Ala117Ser | |
NM_000557.4:c.349G>T | NP_000548.2:p.Ala117Ser | |
XM_011529075.1:c.349G>T | XP_011527377.1:p.Ala117Ser | |
XM_011529076.1:c.349G>T | XP_011527378.1:p.Ala117Ser | |
NM_001319138.1:c.349G>T | NP_001306067.1:p.Ala117Ser | |
NM_000557.5:c.349G>T MANE Select | NP_000548.2:p.Ala117Ser | |
NM_001319138.2:c.349G>T | NP_001306067.1:p.Ala117Ser |