HGVS | Genome Assembly |
---|---|
NC_000014.9:g.50130508G>A , CM000676.2:g.50130508G>A | GRCh38 |
NC_000014.8:g.50597226G>A , CM000676.1:g.50597226G>A | GRCh37 |
NC_000014.7:g.49666976G>A | NCBI36 |
NG_051073.1:g.106186C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000216373.10:c.3330C>T MANE Select | ENSP00000216373.5:p.Ser1110= | |
ENST00000216373.9:c.3330C>T | ENSP00000216373.5:p.Ser1110= | |
ENST00000543680.5:c.3231C>T | ENSP00000445328.1:p.Ser1077= | |
NM_006939.2:c.3330C>T | NP_008870.2:p.Ser1110= | |
XM_005268021.1:c.3150C>T | XP_005268078.1:p.Ser1050= | |
XM_011537103.1:c.3291C>T | XP_011535405.1:p.Ser1097= | |
NM_006939.3:c.3330C>T | NP_008870.2:p.Ser1110= | |
NM_006939.4:c.3330C>T MANE Select | NP_008870.2:p.Ser1110= |