HGVS | Genome Assembly |
---|---|
NC_000023.11:g.25010269G>C , CM000685.2:g.25010269G>C | GRCh38 |
NC_000023.10:g.25028386G>C , CM000685.1:g.25028386G>C | GRCh37 |
NC_000023.9:g.24938307G>C | NCBI36 |
NG_008281.1:g.10680C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000379044.5:c.1110C>G MANE Select | ENSP00000368332.4:p.Ala370= | |
ENST00000379044.4:c.1110C>G | ENSP00000368332.4:p.Ala370= | |
NM_139058.2:c.1110C>G | NP_620689.1:p.Ala370= | |
NM_139058.3:c.1110C>G MANE Select | NP_620689.1:p.Ala370= |