HGVS | Genome Assembly |
---|---|
NC_000002.12:g.218890260T>C , CM000664.2:g.218890260T>C | GRCh38 |
NC_000002.11:g.219754982T>C , CM000664.1:g.219754982T>C | GRCh37 |
NC_000002.10:g.219463226T>C | NCBI36 |
NG_012179.1:g.14728T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000258411.8:c.653T>C MANE Select | ENSP00000258411.3:p.Met218Thr | |
ENST00000258411.7:c.653T>C | ENSP00000258411.3:p.Met218Thr | |
ENST00000458582.1:c.264-2514T>C | ||
NM_025216.2:c.653T>C | NP_079492.2:p.Met218Thr | |
XM_011511928.1:c.602T>C | XP_011510230.1:p.Met201Thr | |
XM_011511929.1:c.557T>C | XP_011510231.1:p.Met186Thr | |
XM_011511930.1:c.377-2514T>C | XP_011510232.1:n.377-2514T>C | |
XM_011511929.2:c.557T>C | XP_011510231.1:p.Met186Thr | |
NM_025216.3:c.653T>C MANE Select | NP_079492.2:p.Met218Thr |