HGVS | Genome Assembly |
---|---|
NC_000017.11:g.42901076T>A , CM000679.2:g.42901076T>A | GRCh38 |
NC_000017.10:g.41053093T>A , CM000679.1:g.41053093T>A | GRCh37 |
NC_000017.9:g.38306619T>A | NCBI36 |
NG_011808.1:g.5279T>A , LRG_147:g.5279T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000253801.7:c.200T>A MANE Select | ENSP00000253801.1:p.Ile67Asn | |
ENST00000253801.6:c.200T>A | ENSP00000253801.1:p.Ile67Asn | |
ENST00000585489.1:c.200T>A | ENSP00000466202.1:p.Ile67Asn | |
ENST00000588481.1:n.265T>A | ||
ENST00000592383.5:c.200T>A | ENSP00000465958.1:p.Ile67Asn | |
NM_000151.3:c.200T>A | NP_000142.2:p.Ile67Asn | |
NM_001270397.1:c.200T>A | NP_001257326.1:p.Ile67Asn | |
NM_000151.4:c.200T>A MANE Select | NP_000142.2:p.Ile67Asn | |
NM_001270397.2:c.200T>A | NP_001257326.1:p.Ile67Asn |