HGVS | Genome Assembly |
---|---|
NC_000008.11:g.31059228G>A , CM000670.2:g.31059228G>A | GRCh38 |
NC_000008.10:g.30916744G>A , CM000670.1:g.30916744G>A | GRCh37 |
NC_000008.9:g.31036286G>A | NCBI36 |
NG_008870.1:g.30967G>A , LRG_524:g.30967G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000298139.7:c.172G>A MANE Select | ENSP00000298139.5:p.Asp58Asn | |
ENST00000650667.1:c.172G>A | ENSP00000498593.1:p.Asp58Asn | |
ENST00000298139.5:c.172G>A | ENSP00000298139.5:p.Asp58Asn | |
NM_000553.4:c.172G>A , LRG_524t1:c.172G>A | NP_000544.2:p.Asp58Asn | |
XM_011544639.1:c.172G>A | XP_011542941.1:p.Asp58Asn | |
XR_949470.1:n.445G>A | ||
XR_949471.1:n.445G>A | ||
XR_949472.1:n.445G>A | ||
NM_000553.5:c.172G>A | NP_000544.2:p.Asp58Asn | |
XM_011544639.3:c.172G>A | XP_011542941.1:p.Asp58Asn | |
XM_024447265.1:c.-163G>A | XP_024303033.1:n.-163G>A | |
XR_949470.3:n.473G>A | ||
XR_949471.3:n.473G>A | ||
XR_949472.3:n.473G>A | ||
NM_000553.6:c.172G>A MANE Select | NP_000544.2:p.Asp58Asn |