HGVS | Genome Assembly |
---|---|
NC_000004.12:g.99597180A>G , CM000666.2:g.99597180A>G | GRCh38 |
NC_000004.11:g.100518337A>G , CM000666.1:g.100518337A>G | GRCh37 |
NC_000004.10:g.100737360A>G | NCBI36 |
NG_011469.1:g.38098A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000265517.10:c.1023A>G MANE Select | ENSP00000265517.5:p.Lys341= | |
ENST00000457717.6:c.1023A>G | ENSP00000400821.1:p.Lys341= | |
ENST00000511045.6:c.774A>G | ENSP00000427679.2:p.Lys258= | |
ENST00000265517.9:c.1023A>G | ENSP00000265517.5:p.Lys341= | |
ENST00000457717.5:c.1023A>G | ENSP00000400821.1:p.Lys341= | |
ENST00000511045.5:c.1104A>G | ENSP00000427679.1:p.Lys368= | |
ENST00000619629.1:c.1023A>G | ENSP00000482850.1:p.Lys341= | |
NM_000253.3:c.1023A>G | NP_000244.2:p.Lys341= | |
NM_001300785.1:c.1104A>G | NP_001287714.1:p.Lys368= | |
NM_000253.4:c.1023A>G | NP_000244.2:p.Lys341= | |
NM_001300785.2:c.774A>G | NP_001287714.2:p.Lys258= | |
NM_001386140.1:c.1023A>G MANE Select | NP_001373069.1:p.Lys341= |