HGVS | Genome Assembly |
---|---|
NC_000023.11:g.137566853T= , CM000685.2:g.137566853T= | GRCh38 |
NC_000023.10:g.136649012T= , CM000685.1:g.136649012T= | GRCh37 |
NC_000023.9:g.136476678T= | NCBI36 |
NG_008115.1:g.5667T= | |
NG_008115.2:g.5727T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000287538.10:c.162T= MANE Select | ENSP00000287538.5:p.Ala54= | |
ENST00000287538.9:c.162T= | ENSP00000287538.5:p.Ala54= | |
ENST00000370606.3:c.162T= | ENSP00000359638.3:p.Ala54= | |
NM_003413.3:c.162T= | NP_003404.1:p.Ala54= | |
NM_001330661.1:c.162T= | NP_001317590.1:p.Ala54= | |
NM_003413.4:c.162T= MANE Select | NP_003404.1:p.Ala54= |