HGVS | Genome Assembly |
---|---|
NC_000005.10:g.74685301T>G , CM000667.2:g.74685301T>G | GRCh38 |
NC_000005.9:g.73981126T>G , CM000667.1:g.73981126T>G | GRCh37 |
NC_000005.8:g.74016882T>G | NCBI36 |
NG_009770.1:g.5158T>G | |
NG_009770.2:g.50279T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261416.12:c.41T>G MANE Select | ENSP00000261416.7:p.Leu14Arg | |
ENST00000261416.11:c.41T>G | ENSP00000261416.7:p.Leu14Arg | |
ENST00000511181.5:c.-376-4027T>G | ENSP00000426285.1:n.-376-4027T>G | |
ENST00000513079.5:n.106T>G | ||
ENST00000515528.1:n.96T>G | ||
NM_000521.3:c.41T>G | NP_000512.1:p.Leu14Arg | |
NM_001292004.1:c.-376-4027T>G | NP_001278933.1:n.-376-4027T>G | |
NM_000521.4:c.41T>G MANE Select | NP_000512.2:p.Leu14Arg | |
NM_001292004.2:c.-376-4027T>G | NP_001278933.1:n.-376-4027T>G |