HGVS | Genome Assembly |
---|---|
NC_000002.12:g.71124400C>T , CM000664.2:g.71124400C>T | GRCh38 |
NC_000002.11:g.71351530C>T , CM000664.1:g.71351530C>T | GRCh37 |
NC_000002.10:g.71205038C>T | NCBI36 |
NG_008977.1:g.10865G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000244217.6:c.184G>A MANE Select | ENSP00000244217.5:p.Ala62Thr | |
ENST00000244217.5:c.184G>A | ENSP00000244217.5:p.Ala62Thr | |
ENST00000413592.5:c.52G>A | ENSP00000391140.1:p.Ala18Thr | |
ENST00000486135.1:c.-102G>A | ENSP00000441569.1:n.-102G>A | |
ENST00000494660.6:c.-102G>A | ENSP00000437361.1:n.-102G>A | |
NM_032601.3:c.184G>A | NP_115990.3:p.Ala62Thr | |
XM_005264613.2:c.184G>A | XP_005264670.1:p.Ala62Thr | |
XR_939729.1:n.253G>A | ||
XR_939729.2:n.253G>A | ||
NM_032601.4:c.184G>A MANE Select | NP_115990.3:p.Ala62Thr |