HGVS | Genome Assembly |
---|---|
NC_000010.11:g.97599784T>C , CM000672.2:g.97599784T>C | GRCh38 |
NC_000010.10:g.99359541T>C , CM000672.1:g.99359541T>C | GRCh37 |
NC_000010.9:g.99349531T>C | NCBI36 |
NG_027922.1:g.20440T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000370646.9:c.573T>C MANE Select | ENSP00000359680.4:p.Asn191= | |
ENST00000370646.8:c.573T>C | ENSP00000359680.4:p.Asn191= | |
ENST00000370647.8:c.212-2073T>C | ENSP00000359681.4:n.212-2073T>C | |
ENST00000370649.3:c.212-2073T>C | ENSP00000359683.3:n.212-2073T>C | |
ENST00000465608.1:n.1417T>C | ||
NM_001134670.1:c.212-2073T>C | NP_001128142.1:n.212-2073T>C | |
NM_138413.3:c.573T>C | NP_612422.2:p.Asn191= | |
NM_138413.4:c.573T>C MANE Select | NP_612422.2:p.Asn191= | |
NM_001134670.2:c.212-2073T>C | NP_001128142.1:n.212-2073T>C |