HGVS | Genome Assembly |
---|---|
NC_000014.9:g.77518149C>G , CM000676.2:g.77518149C>G | GRCh38 |
NC_000014.8:g.77984492C>G , CM000676.1:g.77984492C>G | GRCh37 |
NC_000014.7:g.77054245C>G | NCBI36 |
NG_028282.1:g.103619G>C , LRG_371:g.103619G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000686627.1:n.490G>C | ||
ENST00000687688.1:n.1221G>C | ||
ENST00000692906.1:n.1190G>C | ||
ENST00000216484.7:c.1458G>C MANE Select | ENSP00000216484.2:p.Met486Ile | |
ENST00000216484.6:c.1458G>C | ENSP00000216484.2:p.Met486Ile | |
ENST00000556607.1:c.286G>C | ENSP00000451029.1:n.286G>C | |
NM_004863.3:c.1458G>C , LRG_371t1:c.1458G>C | NP_004854.1:p.Met486Ile | |
NM_004863.4:c.1458G>C MANE Select | NP_004854.1:p.Met486Ile |