HGVS | Genome Assembly |
---|---|
NC_000023.11:g.29917592A>C , CM000685.2:g.29917592A>C | GRCh38 |
NC_000023.10:g.29935709A>C , CM000685.1:g.29935709A>C | GRCh37 |
NC_000023.9:g.29845630A>C | NCBI36 |
NG_008292.1:g.1335029A>C | |
NG_008292.2:g.1335029A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378993.6:c.907A>C MANE Select | ENSP00000368278.1:p.Ile303Leu | |
ENST00000302196.5:c.130A>C | ENSP00000305200.5:p.Ile44Leu | |
ENST00000378993.5:c.907A>C | ENSP00000368278.1:p.Ile303Leu | |
NM_014271.3:c.907A>C | NP_055086.1:p.Ile303Leu | |
XM_005274441.1:c.907A>C | XP_005274498.1:p.Ile303Leu | |
XM_011545445.1:c.907A>C | XP_011543747.1:p.Ile303Leu | |
XM_017029240.1:c.907A>C | XP_016884729.1:p.Ile303Leu | |
XM_017029241.1:c.529A>C | XP_016884730.1:p.Ile177Leu | |
NM_014271.4:c.907A>C MANE Select | NP_055086.1:p.Ile303Leu |