HGVS | Genome Assembly |
---|---|
NC_000019.10:g.15187145C>A , CM000681.2:g.15187145C>A | GRCh38 |
NC_000019.9:g.15297956C>A , CM000681.1:g.15297956C>A | GRCh37 |
NC_000019.8:g.15158956C>A | NCBI36 |
NG_009819.1:g.18837G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263388.7:c.1800G>T MANE Select | ENSP00000263388.1:p.Leu600= | |
ENST00000263388.6:c.1800G>T | ENSP00000263388.1:p.Leu600= | |
ENST00000601011.1:c.1797G>T | ENSP00000473138.1:p.Leu599= | |
NM_000435.2:c.1800G>T | NP_000426.2:p.Leu600= | |
XM_005259924.3:c.1800G>T | XP_005259981.1:p.Leu600= | |
XM_005259924.4:c.1800G>T | XP_005259981.1:p.Leu600= | |
NM_000435.3:c.1800G>T MANE Select | NP_000426.2:p.Leu600= |