HGVS | Genome Assembly |
---|---|
NC_000021.9:g.29345416T>C , CM000683.2:g.29345416T>C | GRCh38 |
NC_000021.8:g.30717737T>C , CM000683.1:g.30717737T>C | GRCh37 |
NC_000021.7:g.29639608T>C | NCBI36 |
NG_029658.1:g.51518T>C | |
NG_029658.2:g.51518T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000286800.8:c.*2583T>C MANE Select | ENSP00000286800.3:n.*2583T>C | |
ENST00000286800.7:c.*2583T>C | ENSP00000286800.3:n.*2583T>C | |
ENST00000399921.5:c.*2583T>C | ENSP00000382805.1:n.*2583T>C | |
ENST00000422809.5:c.472+15723T>C | ||
ENST00000468059.1:c.325+15723T>C | ||
NM_001186.3:c.*2583T>C | NP_001177.1:n.*2583T>C | |
NM_206866.2:c.*2583T>C | NP_996749.1:n.*2583T>C | |
NR_027655.2:n.1956-6218T>C | ||
NM_001186.4:c.*2583T>C MANE Select | NP_001177.1:n.*2583T>C | |
NM_206866.3:c.*2583T>C | NP_996749.1:n.*2583T>C | |
NR_027655.3:n.1956-6218T>C |