HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17022671C>G , CM000663.2:g.17022671C>G | GRCh38 |
NC_000001.10:g.17349166C>G , CM000663.1:g.17349166C>G | GRCh37 |
NC_000001.9:g.17221753C>G | NCBI36 |
NG_012340.1:g.36500G>C , LRG_316:g.36500G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000463045.3:c.531G>C | ENSP00000481376.2:p.Leu177= | |
ENST00000491274.6:c.660G>C | ENSP00000480482.2:p.Leu220= | |
ENST00000375499.8:c.702G>C MANE Select | ENSP00000364649.3:p.Leu234= | |
ENST00000375499.7:c.702G>C | ENSP00000364649.3:p.Leu234= | |
ENST00000475049.5:n.127G>C | ||
ENST00000485092.5:n.366G>C | ||
ENST00000485515.5:n.636G>C | ||
NM_003000.2:c.702G>C , LRG_316t1:c.702G>C | NP_002991.2:p.Leu234= | |
NM_003000.3:c.702G>C MANE Select | NP_002991.2:p.Leu234= |