Linked Data
dbSNP Id:
rs778803525
ExAC:
17:61914891 C / T
gnomAD v2:
17-61914891-C-T
gnomAD v3:
17-63837531-C-T
gnomAD v4:
17-63837531-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63837531C>T , CM000679.2:g.63837531C>T | GRCh38 |
| NC_000017.10:g.61914891C>T , CM000679.1:g.61914891C>T | GRCh37 |
| NC_000017.9:g.59268623C>T | NCBI36 |
| NG_053004.1:g.10461G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697953.1:n.199G>A | ||
| ENST00000698016.1:c.170G>A | ENSP00000513502.1:p.Arg57Gln | |
| ENST00000698022.1:c.128G>A | ENSP00000513504.1:p.Arg43Gln | |
| ENST00000698027.1:c.170G>A | ENSP00000513505.1:p.Arg57Gln | |
| ENST00000448276.7:c.311G>A MANE Select | ENSP00000392617.2:p.Arg104Gln | |
| ENST00000225742.13:c.86G>A | ENSP00000225742.9:p.Arg29Gln | |
| ENST00000323347.14:c.167G>A | ENSP00000318451.10:p.Arg56Gln | |
| ENST00000448276.6:c.311G>A | ENSP00000392617.2:p.Arg104Gln | |
| ENST00000577686.1:n.53-294G>A | ||
| ENST00000580054.1:c.95G>A | ENSP00000463793.1:p.Arg32Gln | |
| ENST00000584400.5:c.217-294G>A | ENSP00000464503.1:n.217-294G>A | |
| ENST00000613943.4:c.200G>A | ENSP00000483605.1:p.Arg67Gln | |
| NM_001098426.1:c.311G>A | NP_001091896.1:p.Arg104Gln | |
| XM_005257604.2:c.86G>A | XP_005257661.2:p.Arg29Gln | |
| NM_001330439.1:c.86G>A | NP_001317368.1:p.Arg29Gln | |
| NM_001330440.1:c.167G>A | NP_001317369.1:p.Arg56Gln | |
| NM_001098426.2:c.311G>A MANE Select | NP_001091896.1:p.Arg104Gln | |
| NM_001330440.2:c.167G>A | NP_001317369.1:p.Arg56Gln |