HGVS | Genome Assembly |
---|---|
NC_000014.9:g.77518151T>G , CM000676.2:g.77518151T>G | GRCh38 |
NC_000014.8:g.77984494T>G , CM000676.1:g.77984494T>G | GRCh37 |
NC_000014.7:g.77054247T>G | NCBI36 |
NG_028282.1:g.103617A>C , LRG_371:g.103617A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000686627.1:n.488A>C | ||
ENST00000687688.1:n.1219A>C | ||
ENST00000692906.1:n.1188A>C | ||
ENST00000216484.7:c.1456A>C MANE Select | ENSP00000216484.2:p.Met486Leu | |
ENST00000216484.6:c.1456A>C | ENSP00000216484.2:p.Met486Leu | |
ENST00000556607.1:c.284A>C | ENSP00000451029.1:n.284A>C | |
NM_004863.3:c.1456A>C , LRG_371t1:c.1456A>C | NP_004854.1:p.Met486Leu | |
NM_004863.4:c.1456A>C MANE Select | NP_004854.1:p.Met486Leu |