HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154860487G= , CM000685.2:g.154860487G= | GRCh38 |
NC_000023.10:g.154088762G= , CM000685.1:g.154088762G= | GRCh37 |
NC_000023.9:g.153741956G= | NCBI36 |
NG_011403.1:g.167237C= | |
NG_011403.2:g.167237C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000360256.9:c.6845C= MANE Select | ENSP00000353393.4:p.Ser2282= | |
ENST00000644698.1:c.578C= | ENSP00000495706.1:p.Ser193= | |
ENST00000330287.10:c.440C= | ENSP00000327895.6:p.Ser147= | |
ENST00000360256.8:c.6845C= | ENSP00000353393.4:p.Ser2282= | |
NM_000132.3:c.6845C= | NP_000123.1:p.Ser2282= | |
NM_019863.2:c.440C= | NP_063916.1:p.Ser147= | |
XM_011531126.1:c.6740C= | XP_011529428.1:p.Ser2247= | |
NM_000132.4:c.6845C= MANE Select | NP_000123.1:p.Ser2282= | |
NM_019863.3:c.440C= | NP_063916.1:p.Ser147= |