HGVS | Genome Assembly |
---|---|
NC_000023.11:g.154957009A>T , CM000685.2:g.154957009A>T | GRCh38 |
NC_000023.10:g.154185284A>T , CM000685.1:g.154185284A>T | GRCh37 |
NC_000023.9:g.153838478A>T | NCBI36 |
NG_011403.1:g.70715T>A | |
NG_011403.2:g.70715T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000360256.9:c.1700T>A MANE Select | ENSP00000353393.4:p.Ile567Asn | |
ENST00000647125.1:c.*1576T>A | ENSP00000496062.1:n.*1576T>A | |
ENST00000360256.8:c.1700T>A | ENSP00000353393.4:p.Ile567Asn | |
NM_000132.3:c.1700T>A | NP_000123.1:p.Ile567Asn | |
XM_011531126.1:c.1595T>A | XP_011529428.1:p.Ile532Asn | |
NM_000132.4:c.1700T>A MANE Select | NP_000123.1:p.Ile567Asn |