Linked Data
dbSNP Id:
rs369591911
ExAC:
10:96827075 C / T
gnomAD v2:
10-96827075-C-T
gnomAD v3:
10-95067318-C-T
gnomAD v4:
10-95067318-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.95067318C>T , CM000672.2:g.95067318C>T | GRCh38 |
| NC_000010.10:g.96827075C>T , CM000672.1:g.96827075C>T | GRCh37 |
| NC_000010.9:g.96817065C>T | NCBI36 |
| NG_007972.1:g.7180G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371270.6:c.371G>A MANE Select | ENSP00000360317.3:p.Arg124Gln | |
| ENST00000371270.5:c.371G>A | ENSP00000360317.3:p.Arg124Gln | |
| ENST00000479946.2:n.675G>A | ||
| ENST00000490994.6:c.*157G>A | ENSP00000433314.1:n.*157G>A | |
| ENST00000525991.5:c.246G>A | ENSP00000433842.1:p.Pro82= | |
| ENST00000526814.5:n.626G>A | ||
| ENST00000527420.5:c.371G>A | ENSP00000433191.1:p.Arg124Gln | |
| ENST00000527953.5:n.626G>A | ||
| ENST00000533320.5:n.605G>A | ||
| ENST00000535898.5:c.65G>A | ENSP00000445062.1:p.Arg22Gln | |
| ENST00000539050.5:c.161G>A | ENSP00000442343.2:p.Arg54Gln | |
| ENST00000623108.3:c.161G>A | ENSP00000485110.1:p.Arg54Gln | |
| ENST00000628935.1:c.113G>A | ENSP00000487145.1:p.Arg38Gln | |
| NM_000770.3:c.371G>A MANE Select | NP_000761.3:p.Arg124Gln | |
| NM_001198853.1:c.161G>A | NP_001185782.1:p.Arg54Gln | |
| NM_001198854.1:c.65G>A | NP_001185783.1:p.Arg22Gln | |
| NM_001198855.1:c.161G>A | NP_001185784.1:p.Arg54Gln | |
| XR_945610.1:n.467G>A |