HGVS | Genome Assembly |
---|---|
NC_000023.11:g.38403645A>T , CM000685.2:g.38403645A>T | GRCh38 |
NC_000023.10:g.38262898A>T , CM000685.1:g.38262898A>T | GRCh37 |
NC_000023.9:g.38147842A>T | NCBI36 |
NG_008471.1:g.56163A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000039007.5:c.568A>T MANE Select | ENSP00000039007.4:p.Thr190Ser | |
ENST00000643344.1:c.*318A>T | ENSP00000496606.1:n.*318A>T | |
ENST00000039007.4:c.568A>T | ENSP00000039007.4:p.Thr190Ser | |
ENST00000465127.1:c.172-262476A>T | ENSP00000417050.1:n.172-262476A>T | |
ENST00000488812.1:n.605A>T | ||
NM_000531.5:c.568A>T | NP_000522.3:p.Thr190Ser | |
XM_017029556.1:c.568A>T | XP_016885045.1:p.Thr190Ser | |
NM_000531.6:c.568A>T MANE Select | NP_000522.3:p.Thr190Ser |