HGVS | Genome Assembly |
---|---|
NC_000023.11:g.29917576A>C , CM000685.2:g.29917576A>C | GRCh38 |
NC_000023.10:g.29935693A>C , CM000685.1:g.29935693A>C | GRCh37 |
NC_000023.9:g.29845614A>C | NCBI36 |
NG_008292.1:g.1335013A>C | |
NG_008292.2:g.1335013A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378993.6:c.891A>C MANE Select | ENSP00000368278.1:p.Arg297= | |
ENST00000302196.5:c.114A>C | ENSP00000305200.5:p.Arg38= | |
ENST00000378993.5:c.891A>C | ENSP00000368278.1:p.Arg297= | |
NM_014271.3:c.891A>C | NP_055086.1:p.Arg297= | |
XM_005274441.1:c.891A>C | XP_005274498.1:p.Arg297= | |
XM_011545445.1:c.891A>C | XP_011543747.1:p.Arg297= | |
XM_017029240.1:c.891A>C | XP_016884729.1:p.Arg297= | |
XM_017029241.1:c.513A>C | XP_016884730.1:p.Arg171= | |
NM_014271.4:c.891A>C MANE Select | NP_055086.1:p.Arg297= |