HGVS | Genome Assembly |
---|---|
NC_000001.11:g.204155094dup , CM000663.2:g.204155094dup | GRCh38 |
NC_000001.10:g.204124222dup , CM000663.1:g.204124222dup | GRCh37 |
NC_000001.9:g.202390845dup | NCBI36 |
NG_012122.1:g.16248dup |
HGVS | Amino-acid change | |
---|---|---|
ENST00000272190.9:c.1147dup MANE Select | ENSP00000272190.8:p.Ala383GlyfsTer12 | |
ENST00000638118.1:c.1033dup | ENSP00000490307.1:p.Ala345GlyfsTer12 | |
ENST00000272190.8:c.1147dup | ENSP00000272190.8:p.Ala383GlyfsTer12 | |
NM_000537.3:c.1147dup | NP_000528.1:p.Ala383GlyfsTer12 | |
NM_000537.4:c.1147dup MANE Select | NP_000528.1:p.Ala383GlyfsTer12 |