HGVS | Genome Assembly |
---|---|
NC_000007.14:g.142957953A>G , CM000669.2:g.142957953A>G | GRCh38 |
NC_000007.13:g.142655040A>G , CM000669.1:g.142655040A>G | GRCh37 |
NC_000007.12:g.142365162A>G | NCBI36 |
NG_007492.1:g.9464T>C | |
NG_007492.2:g.9464T>C | |
NG_007492.3:g.9464T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000355265.7:c.546T>C MANE Select | ENSP00000347409.2:p.Ser182= | |
ENST00000467543.6:c.*398T>C | ENSP00000420011.2:n.*398T>C | |
ENST00000355265.6:c.546T>C | ENSP00000347409.2:p.Ser182= | |
ENST00000467543.5:c.489T>C | ENSP00000420011.1:p.Ser163= | |
ENST00000476829.5:c.525+351T>C | ENSP00000419889.1:n.525+351T>C | |
ENST00000479768.6:n.664T>C | ||
ENST00000494148.1:n.145T>C | ||
NM_000420.2:c.546T>C | NP_000411.1:p.Ser182= | |
XM_005249993.2:c.582T>C | XP_005250050.1:p.Ser194= | |
NM_000420.3:c.546T>C MANE Select | NP_000411.1:p.Ser182= |