HGVS | Genome Assembly |
---|---|
NC_000011.10:g.13728669T>C , CM000673.2:g.13728669T>C | GRCh38 |
NC_000011.9:g.13750216T>C , CM000673.1:g.13750216T>C | GRCh37 |
NC_000011.8:g.13706792T>C | NCBI36 |
NG_041826.1:g.65011T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000703358.1:c.*268T>C | ENSP00000515269.1:n.*268T>C | |
ENST00000354817.8:c.1443T>C MANE Select | ENSP00000346874.3:p.Ile481= | |
ENST00000354817.7:c.1443T>C | ENSP00000346874.3:p.Ile481= | |
ENST00000532502.1:c.315T>C | ENSP00000434624.1:p.Ile105= | |
NM_032228.5:c.1443T>C | NP_115604.1:p.Ile481= | |
XM_011520400.1:c.1452T>C | XP_011518702.1:p.Ile484= | |
XM_011520401.1:c.1275T>C | XP_011518703.1:p.Ile425= | |
XM_011520400.2:c.1452T>C | XP_011518702.1:p.Ile484= | |
NM_032228.6:c.1443T>C MANE Select | NP_115604.1:p.Ile481= |