HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17018780G>A , CM000663.2:g.17018780G>A | GRCh38 |
NC_000001.10:g.17345275G>A , CM000663.1:g.17345275G>A | GRCh37 |
NC_000001.9:g.17217862G>A | NCBI36 |
NG_012340.1:g.40391C>T , LRG_316:g.40391C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000463045.3:c.*101C>T | ENSP00000481376.2:n.*101C>T | |
ENST00000491274.6:c.*101C>T | ENSP00000480482.2:n.*101C>T | |
ENST00000375499.8:c.*101C>T MANE Select | ENSP00000364649.3:n.*101C>T | |
ENST00000375499.7:c.*101C>T | ENSP00000364649.3:n.*101C>T | |
ENST00000475049.5:n.369C>T | ||
ENST00000485092.5:n.608C>T | ||
NM_003000.2:c.*101C>T , LRG_316t1:c.*101C>T | NP_002991.2:n.*101C>T | |
NM_003000.3:c.*101C>T MANE Select | NP_002991.2:n.*101C>T |