HGVS | Genome Assembly |
---|---|
NC_000019.10:g.39507448G>C , CM000681.2:g.39507448G>C | GRCh38 |
NC_000019.9:g.39998088G>C , CM000681.1:g.39998088G>C | GRCh37 |
NC_000019.8:g.44689928G>C | NCBI36 |
NG_008256.1:g.13532G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000356433.10:c.1503G>C MANE Select | ENSP00000348810.4:p.Val501= | |
ENST00000205143.4:c.1503G>C | ENSP00000205143.3:p.Val501= | |
ENST00000356433.9:c.1503G>C | ENSP00000348810.4:p.Val501= | |
NM_016941.3:c.1503G>C | NP_058637.1:p.Val501= | |
NM_203486.2:c.1503G>C | NP_982353.1:p.Val501= | |
NM_016941.4:c.1503G>C | NP_058637.1:p.Val501= | |
NM_203486.3:c.1503G>C MANE Select | NP_982353.1:p.Val501= |