HGVS | Genome Assembly |
---|---|
NC_000023.11:g.106034331A>T , CM000685.2:g.106034331A>T | GRCh38 |
NC_000023.10:g.105278322A>T , CM000685.1:g.105278322A>T | GRCh37 |
NC_000023.9:g.105164978A>T | NCBI36 |
NG_021252.1:g.9397T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372563.2:c.948T>A MANE Select | ENSP00000361644.1:p.Leu316= | |
ENST00000327674.8:c.948T>A | ENSP00000329374.4:p.Leu316= | |
ENST00000372563.1:c.948T>A | ENSP00000361644.1:p.Leu316= | |
ENST00000487487.1:n.221T>A | ||
NM_000354.5:c.948T>A | NP_000345.2:p.Leu316= | |
XM_005262180.3:c.948T>A | XP_005262237.1:p.Leu316= | |
XM_006724683.1:c.948T>A | XP_006724746.1:p.Leu316= | |
XM_005262180.4:c.948T>A | XP_005262237.1:p.Leu316= | |
XM_006724683.2:c.948T>A | XP_006724746.1:p.Leu316= | |
NM_000354.6:c.948T>A MANE Select | NP_000345.2:p.Leu316= |