HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154860485T>A , CM000685.2:g.154860485T>A | GRCh38 |
NC_000023.10:g.154088760T>A , CM000685.1:g.154088760T>A | GRCh37 |
NC_000023.9:g.153741954T>A | NCBI36 |
NG_011403.1:g.167239A>T | |
NG_011403.2:g.167239A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000360256.9:c.6847A>T MANE Select | ENSP00000353393.4:p.Ser2283Cys | |
ENST00000644698.1:c.580A>T | ENSP00000495706.1:p.Ser194Cys | |
ENST00000330287.10:c.442A>T | ENSP00000327895.6:p.Ser148Cys | |
ENST00000360256.8:c.6847A>T | ENSP00000353393.4:p.Ser2283Cys | |
NM_000132.3:c.6847A>T | NP_000123.1:p.Ser2283Cys | |
NM_019863.2:c.442A>T | NP_063916.1:p.Ser148Cys | |
XM_011531126.1:c.6742A>T | XP_011529428.1:p.Ser2248Cys | |
NM_000132.4:c.6847A>T MANE Select | NP_000123.1:p.Ser2283Cys | |
NM_019863.3:c.442A>T | NP_063916.1:p.Ser148Cys |