HGVS | Genome Assembly |
---|---|
NC_000019.10:g.39507567C>G , CM000681.2:g.39507567C>G | GRCh38 |
NC_000019.9:g.39998207C>G , CM000681.1:g.39998207C>G | GRCh37 |
NC_000019.8:g.44690047C>G | NCBI36 |
NG_008256.1:g.13651C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000356433.10:c.1622C>G MANE Select | ENSP00000348810.4:p.Pro541Arg | |
ENST00000205143.4:c.1622C>G | ENSP00000205143.3:p.Pro541Arg | |
ENST00000356433.9:c.1622C>G | ENSP00000348810.4:p.Pro541Arg | |
NM_016941.3:c.1622C>G | NP_058637.1:p.Pro541Arg | |
NM_203486.2:c.1622C>G | NP_982353.1:p.Pro541Arg | |
NM_016941.4:c.1622C>G | NP_058637.1:p.Pro541Arg | |
NM_203486.3:c.1622C>G MANE Select | NP_982353.1:p.Pro541Arg |