HGVS | Genome Assembly |
---|---|
NC_000023.11:g.153690473A>T , CM000685.2:g.153690473A>T | GRCh38 |
NC_000023.10:g.152955928A>T , CM000685.1:g.152955928A>T | GRCh37 |
NC_000023.9:g.152609122A>T | NCBI36 |
NG_012016.1:g.7177A>T | |
NG_012016.2:g.7177A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000253122.10:c.361A>T MANE Select | ENSP00000253122.5:p.Ile121Phe | |
ENST00000675713.1:n.115A>T | ||
ENST00000253122.9:c.361A>T | ENSP00000253122.5:p.Ile121Phe | |
ENST00000430077.6:c.16A>T | ENSP00000403041.2:p.Ile6Phe | |
ENST00000476466.1:n.213A>T | ||
NM_001142805.1:c.361A>T | NP_001136277.1:p.Ile121Phe | |
NM_001142806.1:c.16A>T | NP_001136278.1:p.Ile6Phe | |
NM_005629.3:c.361A>T | NP_005620.1:p.Ile121Phe | |
NM_005629.4:c.361A>T MANE Select | NP_005620.1:p.Ile121Phe | |
NM_001142805.2:c.361A>T | NP_001136277.1:p.Ile121Phe |