HGVS | Genome Assembly |
---|---|
NC_000023.11:g.137567279T= , CM000685.2:g.137567279T= | GRCh38 |
NC_000023.10:g.136649438T= , CM000685.1:g.136649438T= | GRCh37 |
NC_000023.9:g.136477104T= | NCBI36 |
NG_008115.1:g.6093T= | |
NG_008115.2:g.6153T= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000287538.10:c.588T= MANE Select | ENSP00000287538.5:p.Ala196= | |
ENST00000287538.9:c.588T= | ENSP00000287538.5:p.Ala196= | |
ENST00000370606.3:c.588T= | ENSP00000359638.3:p.Ala196= | |
NM_003413.3:c.588T= | NP_003404.1:p.Ala196= | |
NM_001330661.1:c.588T= | NP_001317590.1:p.Ala196= | |
NM_003413.4:c.588T= MANE Select | NP_003404.1:p.Ala196= |