HGVS | Genome Assembly |
---|---|
NC_000012.12:g.64728996T= , CM000674.2:g.64728996T= | GRCh38 |
NC_000012.11:g.65122776T= , CM000674.1:g.65122776T= | GRCh37 |
NC_000012.10:g.63409043T= | NCBI36 |
NG_008955.1:g.35451A= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000258145.8:c.1160A= MANE Select | ENSP00000258145.3:p.Asn387= | |
ENST00000258145.7:c.1160A= | ENSP00000258145.3:p.Asn387= | |
ENST00000418919.6:c.992A= | ENSP00000413130.2:p.Asn331= | |
ENST00000537823.1:n.159A= | ||
ENST00000540196.5:c.557-5883A= | ||
ENST00000540883.1:n.223A= | ||
ENST00000541781.5:n.1215A= | ||
ENST00000542058.5:c.1100A= | ENSP00000444819.1:p.Asn367= | |
ENST00000543646.5:c.1256A= | ENSP00000438497.1:p.Asn419= | |
NM_002076.3:c.1160A= | NP_002067.1:p.Asn387= | |
NM_002076.4:c.1160A= MANE Select | NP_002067.1:p.Asn387= |