HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41584332C>G , CM000679.2:g.41584332C>G | GRCh38 |
NC_000017.10:g.39740584C>G , CM000679.1:g.39740584C>G | GRCh37 |
NC_000017.9:g.36994110C>G | NCBI36 |
NG_008624.1:g.7564G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000167586.7:c.690G>C MANE Select | ENSP00000167586.6:p.Leu230= | |
ENST00000167586.6:c.690G>C | ENSP00000167586.6:p.Leu230= | |
ENST00000476662.1:n.140G>C | ||
NM_000526.4:c.690G>C | NP_000517.2:p.Leu230= | |
NM_000526.5:c.690G>C MANE Select | NP_000517.3:p.Leu230= |