HGVS | Genome Assembly |
---|---|
NC_000007.14:g.17339571G>C , CM000669.2:g.17339571G>C | GRCh38 |
NC_000007.13:g.17379195G>C , CM000669.1:g.17379195G>C | GRCh37 |
NC_000007.12:g.17345720G>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000242057.9:c.1746G>C MANE Select | ENSP00000242057.4:p.Leu582= | |
ENST00000637807.1:c.1716G>C | ENSP00000490530.1:p.Leu572= | |
ENST00000642825.1:c.1701G>C | ENSP00000495987.1:p.Leu567= | |
ENST00000242057.8:c.1746G>C | ENSP00000242057.4:p.Leu582= | |
ENST00000463496.1:c.1746G>C | ENSP00000436466.1:p.Leu582= | |
NM_001621.4:c.1746G>C | NP_001612.1:p.Leu582= | |
NM_001621.5:c.1746G>C MANE Select | NP_001612.1:p.Leu582= |