HGVS | Genome Assembly |
---|---|
NC_000002.12:g.218890259A>T , CM000664.2:g.218890259A>T | GRCh38 |
NC_000002.11:g.219754981A>T , CM000664.1:g.219754981A>T | GRCh37 |
NC_000002.10:g.219463225A>T | NCBI36 |
NG_012179.1:g.14727A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000258411.8:c.652A>T MANE Select | ENSP00000258411.3:p.Met218Leu | |
ENST00000258411.7:c.652A>T | ENSP00000258411.3:p.Met218Leu | |
ENST00000458582.1:c.264-2515A>T | ||
NM_025216.2:c.652A>T | NP_079492.2:p.Met218Leu | |
XM_011511928.1:c.601A>T | XP_011510230.1:p.Met201Leu | |
XM_011511929.1:c.556A>T | XP_011510231.1:p.Met186Leu | |
XM_011511930.1:c.377-2515A>T | XP_011510232.1:n.377-2515A>T | |
XM_011511929.2:c.556A>T | XP_011510231.1:p.Met186Leu | |
NM_025216.3:c.652A>T MANE Select | NP_079492.2:p.Met218Leu |