HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17018777C>A , CM000663.2:g.17018777C>A | GRCh38 |
NC_000001.10:g.17345272C>A , CM000663.1:g.17345272C>A | GRCh37 |
NC_000001.9:g.17217859C>A | NCBI36 |
NG_012340.1:g.40394G>T , LRG_316:g.40394G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000463045.3:c.*104G>T | ENSP00000481376.2:n.*104G>T | |
ENST00000491274.6:c.*104G>T | ENSP00000480482.2:n.*104G>T | |
ENST00000375499.8:c.*104G>T MANE Select | ENSP00000364649.3:n.*104G>T | |
ENST00000375499.7:c.*104G>T | ENSP00000364649.3:n.*104G>T | |
ENST00000475049.5:n.372G>T | ||
ENST00000485092.5:n.611G>T | ||
NM_003000.2:c.*104G>T , LRG_316t1:c.*104G>T | NP_002991.2:n.*104G>T | |
NM_003000.3:c.*104G>T MANE Select | NP_002991.2:n.*104G>T |