HGVS | Genome Assembly |
---|---|
NC_000016.10:g.56609453T>C , CM000678.2:g.56609453T>C | GRCh38 |
NC_000016.9:g.56643365T>C , CM000678.1:g.56643365T>C | GRCh37 |
NC_000016.8:g.55200866T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000245185.6:c.*99T>C MANE Select | ENSP00000245185.5:n.*99T>C | |
ENST00000245185.5:c.*99T>C | ENSP00000245185.5:n.*99T>C | |
ENST00000561491.1:c.*268T>C | ENSP00000456804.1:n.*268T>C | |
ENST00000562017.1:n.859T>C | ||
ENST00000563985.1:n.665T>C | ||
ENST00000567300.1:n.372T>C | ||
NM_005953.3:c.*99T>C | NP_005944.1:n.*99T>C | |
XR_933616.1:n.1037A>G | ||
NM_005953.4:c.*99T>C | NP_005944.1:n.*99T>C | |
NM_005953.5:c.*99T>C MANE Select | NP_005944.1:n.*99T>C |