HGVS | Genome Assembly |
---|---|
NC_000010.11:g.113588244A>T , CM000672.2:g.113588244A>T | GRCh38 |
NC_000010.10:g.115348003A>T , CM000672.1:g.115348003A>T | GRCh37 |
NC_000010.9:g.115337993A>T | NCBI36 |
NG_008956.1:g.40226A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000351270.4:c.1558A>T MANE Select | ENSP00000277903.4:p.Thr520Ser | |
ENST00000351270.3:c.1558A>T | ENSP00000277903.4:p.Thr520Ser | |
ENST00000542051.5:c.1480A>T | ENSP00000443283.1:p.Thr494Ser | |
NM_001177660.1:c.1480A>T | NP_001171131.1:p.Thr494Ser | |
NM_004132.3:c.1558A>T | NP_004123.1:p.Thr520Ser | |
NM_001177660.2:c.1480A>T | NP_001171131.1:p.Thr494Ser | |
NM_004132.4:c.1558A>T | NP_004123.1:p.Thr520Ser | |
NM_004132.5:c.1558A>T MANE Select | NP_004123.1:p.Thr520Ser | |
NM_001177660.3:c.1480A>T | NP_001171131.1:p.Thr494Ser |