HGVS | Genome Assembly |
---|---|
NC_000007.14:g.116795664G>A , CM000669.2:g.116795664G>A | GRCh38 |
NC_000007.13:g.116435718G>A , CM000669.1:g.116435718G>A | GRCh37 |
NC_000007.12:g.116222954G>A | NCBI36 |
NG_008996.1:g.128260G>A , LRG_662:g.128260G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000436117.3:c.*1413G>A | ENSP00000410980.2:n.*1413G>A | |
ENST00000318493.11:c.3862G>A | ENSP00000317272.6:p.Gly1288Ser | |
ENST00000397752.8:c.3808G>A MANE Select | ENSP00000380860.3:p.Gly1270Ser | |
ENST00000318493.10:c.3862G>A | ENSP00000317272.6:p.Gly1288Ser | |
ENST00000397752.7:c.3808G>A | ENSP00000380860.3:p.Gly1270Ser | |
NM_000245.2:c.3808G>A | NP_000236.2:p.Gly1270Ser | |
NM_001127500.1:c.3862G>A , LRG_662t1:c.3862G>A | NP_001120972.1:p.Gly1288Ser | |
XM_006715990.2:c.2518G>A | XP_006716053.1:p.Gly840Ser | |
XM_006715991.2:c.2518G>A | XP_006716054.1:p.Gly840Ser | |
XM_011516223.1:c.3865G>A | XP_011514525.1:p.Gly1289Ser | |
NM_000245.3:c.3808G>A | NP_000236.2:p.Gly1270Ser | |
NM_001127500.2:c.3862G>A | NP_001120972.1:p.Gly1288Ser | |
NM_001324402.1:c.2518G>A | NP_001311331.1:p.Gly840Ser | |
XR_001744772.1:n.3939G>A | ||
NM_001127500.3:c.3862G>A | NP_001120972.1:p.Gly1288Ser | |
NM_000245.4:c.3808G>A MANE Select | NP_000236.2:p.Gly1270Ser | |
NM_001324402.2:c.2518G>A | NP_001311331.1:p.Gly840Ser |