HGVS | Genome Assembly |
---|---|
NC_000022.11:g.23292603G>A , CM000684.2:g.23292603G>A | GRCh38 |
NC_000022.10:g.23634790G>A , CM000684.1:g.23634790G>A | GRCh37 |
NC_000022.9:g.21964790G>A | NCBI36 |
NG_009244.1:g.117239G>A | |
NG_009244.2:g.117239G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000305877.13:c.2845G>A MANE Select | ENSP00000303507.8:p.Val949Ile | |
ENST00000305877.12:c.2845G>A | ENSP00000303507.8:p.Val949Ile | |
ENST00000359540.7:c.2845G>A | ENSP00000352535.3:p.Val949Ile | |
ENST00000398512.9:c.1541G>A | ENSP00000381524.6:n.1541G>A | |
ENST00000419722.6:n.70G>A | ||
NM_004327.3:c.2845G>A | NP_004318.3:p.Val949Ile | |
NM_021574.2:c.2845G>A | NP_067585.2:p.Val949Ile | |
NM_004327.4:c.2845G>A MANE Select | NP_004318.3:p.Val949Ile | |
NM_021574.3:c.2845G>A | NP_067585.2:p.Val949Ile |