HGVS | Genome Assembly |
---|---|
NC_000023.11:g.50192554G>A , CM000685.2:g.50192554G>A | GRCh38 |
NC_000023.10:g.49957205G>A , CM000685.1:g.49957205G>A | GRCh37 |
NC_000023.9:g.49843945G>A | NCBI36 |
NG_012552.1:g.13460C>T | |
NG_012552.2:g.13460C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000358526.7:c.2159C>T MANE Select | ENSP00000351327.2:p.Ala720Val | |
ENST00000358526.6:c.2159C>T | ENSP00000351327.2:p.Ala720Val | |
ENST00000376064.7:c.2132C>T | ENSP00000365232.3:p.Ala711Val | |
ENST00000481402.5:n.2271C>T | ||
NM_003886.2:c.2159C>T | NP_003877.2:p.Ala720Val | |
NM_139289.1:c.2132C>T | NP_647450.1:p.Ala711Val | |
NM_003886.3:c.2159C>T MANE Select | NP_003877.2:p.Ala720Val | |
NM_139289.2:c.2132C>T | NP_647450.1:p.Ala711Val |