HGVS | Genome Assembly |
---|---|
NC_000007.14:g.116796211G>A , CM000669.2:g.116796211G>A | GRCh38 |
NC_000007.13:g.116436265G>A , CM000669.1:g.116436265G>A | GRCh37 |
NC_000007.12:g.116223501G>A | NCBI36 |
NG_008996.1:g.128807G>A , LRG_662:g.128807G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000436117.3:c.*1865G>A | ENSP00000410980.2:n.*1865G>A | |
ENST00000318493.11:c.*87G>A | ENSP00000317272.6:n.*87G>A | |
ENST00000397752.8:c.*87G>A MANE Select | ENSP00000380860.3:n.*87G>A | |
ENST00000318493.10:c.*87G>A | ENSP00000317272.6:n.*87G>A | |
ENST00000397752.7:c.*87G>A | ENSP00000380860.3:n.*87G>A | |
NM_000245.2:c.*87G>A | NP_000236.2:n.*87G>A | |
NM_001127500.1:c.*87G>A , LRG_662t1:c.*87G>A | NP_001120972.1:n.*87G>A | |
XM_006715990.2:c.*87G>A | XP_006716053.1:n.*87G>A | |
XM_006715991.2:c.*87G>A | XP_006716054.1:n.*87G>A | |
XM_011516223.1:c.*87G>A | XP_011514525.1:n.*87G>A | |
NM_000245.3:c.*87G>A | NP_000236.2:n.*87G>A | |
NM_001127500.2:c.*87G>A | NP_001120972.1:n.*87G>A | |
NM_001324402.1:c.*87G>A | NP_001311331.1:n.*87G>A | |
XR_001744772.1:n.4391G>A | ||
NM_001127500.3:c.*87G>A | NP_001120972.1:n.*87G>A | |
NM_000245.4:c.*87G>A MANE Select | NP_000236.2:n.*87G>A | |
NM_001324402.2:c.*87G>A | NP_001311331.1:n.*87G>A |