HGVS | Genome Assembly |
---|---|
NC_000010.11:g.30313938G>C , CM000672.2:g.30313938G>C | GRCh38 |
NC_000010.10:g.30602867G>C , CM000672.1:g.30602867G>C | GRCh37 |
NC_000010.9:g.30642873G>C | NCBI36 |
NG_028096.1:g.40401C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000263063.9:c.1420C>G MANE Select | ENSP00000263063.3:p.Leu474Val | |
ENST00000263063.8:c.1420C>G | ENSP00000263063.3:p.Leu474Val | |
ENST00000488290.5:n.3175C>G | ||
NM_018109.3:c.1420C>G | NP_060579.3:p.Leu474Val | |
NM_018109.4:c.1420C>G MANE Select | NP_060579.3:p.Leu474Val |