HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57763746A>G , CM000674.2:g.57763746A>G | GRCh38 |
NC_000012.11:g.58157529A>G , CM000674.1:g.58157529A>G | GRCh37 |
NC_000012.10:g.56443796A>G | NCBI36 |
NG_007076.1:g.8448T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000713544.1:c.1359T>C | ENSP00000518840.1:p.Asn453= | |
ENST00000713545.1:c.*283T>C | ENSP00000518841.1:n.*283T>C | |
ENST00000228606.9:c.1278T>C MANE Select | ENSP00000228606.4:p.Asn426= | |
ENST00000228606.8:c.1278T>C | ENSP00000228606.4:p.Asn426= | |
ENST00000547344.5:n.1417T>C | ||
NM_000785.3:c.1278T>C | NP_000776.1:p.Asn426= | |
NM_000785.4:c.1278T>C MANE Select | NP_000776.1:p.Asn426= |