HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41612630A>T , CM000679.2:g.41612630A>T | GRCh38 |
NC_000017.10:g.39768882A>T , CM000679.1:g.39768882A>T | GRCh37 |
NC_000017.9:g.37022408A>T | NCBI36 |
NG_008301.1:g.5198T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301653.9:c.59T>A MANE Select | ENSP00000301653.3:p.Ile20Asn | |
ENST00000301653.8:c.59T>A | ENSP00000301653.3:p.Ile20Asn | |
ENST00000588319.1:n.136T>A | ||
ENST00000590990.1:c.59T>A | ENSP00000467105.1:p.Ile20Asn | |
ENST00000593067.1:c.-313+160T>A | ENSP00000467124.1:n.-313+160T>A | |
NM_005557.3:c.59T>A | NP_005548.2:p.Ile20Asn | |
NM_005557.4:c.59T>A MANE Select | NP_005548.2:p.Ile20Asn |