HGVS | Genome Assembly |
---|---|
NC_000007.14:g.96121695C>T , CM000669.2:g.96121695C>T | GRCh38 |
NC_000007.13:g.95751007C>T , CM000669.1:g.95751007C>T | GRCh37 |
NC_000007.12:g.95588943C>T | NCBI36 |
NG_012247.1:g.205453G>A | |
NG_012247.2:g.205453G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000265631.10:c.1801G>A MANE Select | ENSP00000265631.6:p.Glu601Lys | |
ENST00000265631.9:c.1801G>A | ENSP00000265631.5:p.Glu601Lys | |
ENST00000416240.6:c.1804G>A | ENSP00000400101.2:p.Glu602Lys | |
ENST00000494085.1:n.304G>A | ||
NM_001160210.1:c.1804G>A | NP_001153682.1:p.Glu602Lys | |
NM_014251.2:c.1801G>A | NP_055066.1:p.Glu601Lys | |
NR_027662.1:n.1876G>A | ||
XM_006715831.2:c.1834G>A | XP_006715894.1:p.Glu612Lys | |
XM_011515728.1:c.949G>A | XP_011514030.1:p.Glu317Lys | |
XM_006715831.4:c.1834G>A | XP_006715894.1:p.Glu612Lys | |
XM_017011663.1:c.1792G>A | XP_016867152.1:p.Glu598Lys | |
XM_017011664.2:c.949G>A | XP_016867153.1:p.Glu317Lys | |
XM_017011665.1:c.949G>A | XP_016867154.1:p.Glu317Lys | |
XR_001744525.2:n.2047G>A | ||
XR_002956405.1:n.2605G>A | ||
NM_014251.3:c.1801G>A MANE Select | NP_055066.1:p.Glu601Lys | |
NR_027662.2:n.1827G>A | ||
NM_001160210.2:c.1804G>A | NP_001153682.1:p.Glu602Lys |