HGVS | Genome Assembly |
---|---|
NC_000007.14:g.255704T>C , CM000669.2:g.255704T>C | GRCh38 |
NC_000007.13:g.295670T>C , CM000669.1:g.295670T>C | GRCh37 |
NG_033970.1:g.65340T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000313766.6:c.1073-145T>C MANE Select | ENSP00000322323.5:n.1073-145T>C | |
ENST00000313766.5:c.1073-145T>C | ENSP00000322323.5:n.1073-145T>C | |
ENST00000515795.1:n.730-145T>C | ||
NM_020223.3:c.1073-145T>C | NP_064608.2:n.1073-145T>C | |
XR_242097.3:n.1220-145T>C | ||
XM_017012450.1:c.1334-145T>C | XP_016867939.1:n.1334-145T>C | |
XM_017012451.1:c.1331-145T>C | XP_016867940.1:n.1331-145T>C | |
XM_017012455.2:c.371-145T>C | XP_016867944.1:n.371-145T>C | |
NM_020223.4:c.1073-145T>C MANE Select | NP_064608.2:n.1073-145T>C |