Linked Data
ClinVar Variation Id:
1037
ClinVar RCV Id:
RCV000001092
dbSNP Id:
rs118203968
ExAC:
17:42153128 G / A
gnomAD v2:
17-42153128-G-A
gnomAD v3:
17-44075760-G-A
gnomAD v4:
17-44075760-G-A
COSMIC:
COSM1252917
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44075760G>A , CM000679.2:g.44075760G>A | GRCh38 |
| NC_000017.10:g.42153128G>A , CM000679.1:g.42153128G>A | GRCh37 |
| NC_000017.9:g.39508654G>A | NCBI36 |
| NG_015818.1:g.10031G>A , LRG_182:g.10031G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000585361.6:c.*595G>A | ENSP00000466983.1:n.*595G>A | |
| ENST00000588558.6:c.*733G>A | ENSP00000467624.1:n.*733G>A | |
| ENST00000590253.3:c.*51G>A | ENSP00000465111.2:n.*51G>A | |
| ENST00000593115.2:c.*779G>A | ENSP00000466821.1:n.*779G>A | |
| ENST00000696383.1:c.413G>A | ENSP00000512593.1:p.Arg138His | |
| ENST00000696384.1:c.*318G>A | ENSP00000512594.1:n.*318G>A | |
| ENST00000696385.1:c.*476G>A | ENSP00000512595.1:n.*476G>A | |
| ENST00000696386.1:c.*51G>A | ENSP00000512596.1:n.*51G>A | |
| ENST00000696387.1:c.*385G>A | ENSP00000512597.1:n.*385G>A | |
| ENST00000696388.1:c.*604G>A | ENSP00000512598.1:n.*604G>A | |
| ENST00000696389.1:c.*789G>A | ENSP00000512599.1:n.*789G>A | |
| ENST00000696390.1:c.548G>A | ENSP00000512600.1:p.Arg183His | |
| ENST00000696391.1:c.*614G>A | ENSP00000512601.1:n.*614G>A | |
| ENST00000696392.1:c.758G>A | ENSP00000512602.1:p.Arg253His | |
| ENST00000696393.1:c.758G>A | ENSP00000512603.1:p.Arg253His | |
| ENST00000696405.1:c.677+309G>A | ENSP00000512607.1:n.677+309G>A | |
| ENST00000269097.9:c.758G>A MANE Select | ENSP00000269097.3:p.Arg253His | |
| ENST00000269097.8:c.758G>A | ENSP00000269097.3:p.Arg253His | |
| ENST00000585361.5:c.*595G>A | ENSP00000466983.1:n.*595G>A | |
| ENST00000588558.5:c.*733G>A | ENSP00000467624.1:n.*733G>A | |
| ENST00000590253.2:c.260G>A | ||
| ENST00000590639.1:n.779G>A | ||
| ENST00000591696.1:c.650G>A | ENSP00000468677.1:p.Arg217His | |
| NM_138387.3:c.758G>A , LRG_182t1:c.758G>A | NP_612396.1:p.Arg253His | |
| NR_028581.1:n.1188G>A | ||
| NR_028582.1:n.1053G>A | ||
| XM_011525473.1:c.413G>A | XP_011523775.1:p.Arg138His | |
| XM_011525474.1:c.413G>A | XP_011523776.1:p.Arg138His | |
| NM_001319945.1:c.*51G>A | NP_001306874.1:n.*51G>A | |
| XM_011525473.3:c.413G>A | XP_011523775.1:p.Arg138His | |
| XM_011525474.3:c.413G>A | XP_011523776.1:p.Arg138His | |
| XM_017025335.2:c.413G>A | XP_016880824.1:p.Arg138His | |
| NM_001319945.2:c.*51G>A | NP_001306874.1:n.*51G>A | |
| NR_028581.2:n.1007G>A | ||
| NR_028582.2:n.872G>A | ||
| NM_001384165.1:c.413G>A | NP_001371094.1:p.Arg138His | |
| NM_001384166.1:c.413G>A | NP_001371095.1:p.Arg138His | |
| NM_001384167.1:c.413G>A | NP_001371096.1:p.Arg138His | |
| NM_001384168.1:c.413G>A | NP_001371097.1:p.Arg138His | |
| NM_138387.4:c.758G>A MANE Select | NP_612396.1:p.Arg253His |