HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154965997A>C , CM000685.2:g.154965997A>C | GRCh38 |
NC_000023.10:g.154194272A>C , CM000685.1:g.154194272A>C | GRCh37 |
NC_000023.9:g.153847466A>C | NCBI36 |
NG_011403.1:g.61727T>G | |
NG_011403.2:g.61727T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000360256.9:c.1416T>G MANE Select | ENSP00000353393.4:p.Leu472= | |
ENST00000647125.1:c.*1292T>G | ENSP00000496062.1:n.*1292T>G | |
ENST00000360256.8:c.1416T>G | ENSP00000353393.4:p.Leu472= | |
ENST00000483822.2:n.236T>G | ||
NM_000132.3:c.1416T>G | NP_000123.1:p.Leu472= | |
XM_011531126.1:c.1311T>G | XP_011529428.1:p.Leu437= | |
NM_000132.4:c.1416T>G MANE Select | NP_000123.1:p.Leu472= |