Linked Data
ClinVar Variation Id:
46040
ClinVar RCV Id:
RCV000039276
RCV000725220
RCV000988383
RCV001264702
RCV001374881
RCV001559300
RCV004017329
RCV003473285
RCV003483451
RCV004528197
dbSNP Id:
rs202052174
ExAC:
10:73563128 G / A
gnomAD v2:
10-73563128-G-A
gnomAD v3:
10-71803371-G-A
gnomAD v4:
10-71803371-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71803371G>A , CM000672.2:g.71803371G>A | GRCh38 |
| NC_000010.10:g.73563128G>A , CM000672.1:g.73563128G>A | GRCh37 |
| NC_000010.9:g.73233134G>A | NCBI36 |
| NG_008835.1:g.411425G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.7823G>A MANE Select | ENSP00000224721.9:p.Arg2608His | |
| ENST00000642965.1:c.1756G>A | ENSP00000495222.1:n.1756G>A | |
| ENST00000647092.1:c.1420G>A | ENSP00000495176.1:n.1420G>A | |
| ENST00000224721.10:c.7838G>A | ENSP00000224721.8:p.Arg2613His | |
| ENST00000398788.4:c.1103G>A | ENSP00000381768.3:p.Arg368His | |
| ENST00000475158.1:n.1359G>A | ||
| ENST00000619887.4:c.1103G>A | ENSP00000478374.1:p.Arg368His | |
| ENST00000622827.4:c.7823G>A | ENSP00000483211.1:p.Arg2608His | |
| NM_001171933.1:c.1103G>A | NP_001165404.1:p.Arg368His | |
| NM_001171934.1:c.1103G>A | NP_001165405.1:p.Arg368His | |
| NM_022124.5:c.7823G>A | NP_071407.4:p.Arg2608His | |
| XM_006717940.2:c.8018G>A | XP_006718003.1:p.Arg2673His | |
| XM_006717942.2:c.7952G>A | XP_006718005.1:p.Arg2651His | |
| XM_011540039.1:c.8015G>A | XP_011538341.1:p.Arg2672His | |
| XM_011540040.1:c.8012G>A | XP_011538342.1:p.Arg2671His | |
| XM_011540041.1:c.7958G>A | XP_011538343.1:p.Arg2653His | |
| XM_011540042.1:c.7928G>A | XP_011538344.1:p.Arg2643His | |
| XM_011540043.1:c.8018G>A | XP_011538345.1:p.Arg2673His | |
| XM_011540044.1:c.7883G>A | XP_011538346.1:p.Arg2628His | |
| XM_011540045.1:c.8018G>A | XP_011538347.1:p.Arg2673His | |
| XM_011540046.1:c.7478G>A | XP_011538348.1:p.Arg2493His | |
| XM_011540047.1:c.6836G>A | XP_011538349.1:p.Arg2279His | |
| XM_011540052.1:c.4346G>A | XP_011538354.1:p.Arg1449His | |
| NM_022124.6:c.7823G>A MANE Select | NP_071407.4:p.Arg2608His |