HGVS | Genome Assembly |
---|---|
NC_000023.11:g.106033699G= , CM000685.2:g.106033699G= | GRCh38 |
NC_000023.10:g.105277690G= , CM000685.1:g.105277690G= | GRCh37 |
NC_000023.9:g.105164346G= | NCBI36 |
NG_021252.1:g.10029C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000372563.2:c.1049C= MANE Select | ENSP00000361644.1:p.Ala350= | |
ENST00000327674.8:c.1049C= | ENSP00000329374.4:p.Ala350= | |
ENST00000372563.1:c.1049C= | ENSP00000361644.1:p.Ala350= | |
ENST00000487487.1:n.383C= | ||
NM_000354.5:c.1049C= | NP_000345.2:p.Ala350= | |
XM_005262180.3:c.1110C= | XP_005262237.1:p.Cys370= | |
XM_006724683.1:c.1079C= | XP_006724746.1:p.Ala360= | |
XM_005262180.4:c.1110C= | XP_005262237.1:p.Cys370= | |
XM_006724683.2:c.1079C= | XP_006724746.1:p.Ala360= | |
NM_000354.6:c.1049C= MANE Select | NP_000345.2:p.Ala350= |