Linked Data
ClinVar Variation Id:
198370
ClinVar RCV Id:
RCV000179680
RCV000624879
RCV000763668
RCV001276932
RCV001331235
RCV002509282
RCV003474936
dbSNP Id:
rs140884994
ExAC:
10:73572538 G / A
gnomAD v2:
10-73572538-G-A
gnomAD v3:
10-71812781-G-A
gnomAD v4:
10-71812781-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71812781G>A , CM000672.2:g.71812781G>A | GRCh38 |
| NC_000010.10:g.73572538G>A , CM000672.1:g.73572538G>A | GRCh37 |
| NC_000010.9:g.73242544G>A | NCBI36 |
| NG_008835.1:g.420835G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.9524G>A MANE Select | ENSP00000224721.9:p.Arg3175His | |
| ENST00000642965.1:c.3457G>A | ENSP00000495222.1:n.3457G>A | |
| ENST00000647092.1:c.3121G>A | ENSP00000495176.1:n.3121G>A | |
| ENST00000224721.10:c.9539G>A | ENSP00000224721.8:p.Arg3180His | |
| ENST00000398788.4:c.2804G>A | ENSP00000381768.3:p.Arg935His | |
| ENST00000475158.1:n.3060G>A | ||
| ENST00000619887.4:c.2804G>A | ENSP00000478374.1:p.Arg935His | |
| ENST00000622827.4:c.9524G>A | ENSP00000483211.1:p.Arg3175His | |
| NM_001171933.1:c.2804G>A | NP_001165404.1:p.Arg935His | |
| NM_001171934.1:c.2804G>A | NP_001165405.1:p.Arg935His | |
| NM_001171935.1:c.215G>A | NP_001165406.1:p.Arg72His | |
| NM_001171936.1:c.215G>A | NP_001165407.1:p.Arg72His | |
| NM_022124.5:c.9524G>A | NP_071407.4:p.Arg3175His | |
| XM_006717940.2:c.9719G>A | XP_006718003.1:p.Arg3240His | |
| XM_006717942.2:c.9653G>A | XP_006718005.1:p.Arg3218His | |
| XM_011540039.1:c.9716G>A | XP_011538341.1:p.Arg3239His | |
| XM_011540040.1:c.9713G>A | XP_011538342.1:p.Arg3238His | |
| XM_011540041.1:c.9659G>A | XP_011538343.1:p.Arg3220His | |
| XM_011540042.1:c.9629G>A | XP_011538344.1:p.Arg3210His | |
| XM_011540043.1:c.9719G>A | XP_011538345.1:p.Arg3240His | |
| XM_011540044.1:c.9584G>A | XP_011538346.1:p.Arg3195His | |
| XM_011540045.1:c.9719G>A | XP_011538347.1:p.Arg3240His | |
| XM_011540046.1:c.9179G>A | XP_011538348.1:p.Arg3060His | |
| XM_011540047.1:c.8537G>A | XP_011538349.1:p.Arg2846His | |
| XM_011540052.1:c.6047G>A | XP_011538354.1:p.Arg2016His | |
| NM_022124.6:c.9524G>A MANE Select | NP_071407.4:p.Arg3175His |