Linked Data
ClinVar Variation Id:
537597
dbSNP Id:
rs1302045127
gnomAD v2:
5-112043505-A-C
gnomAD v4:
5-112707808-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112707808A>C , CM000667.2:g.112707808A>C | GRCh38 |
| NC_000005.9:g.112043505A>C , CM000667.1:g.112043505A>C | GRCh37 |
| NC_000005.8:g.112071404A>C | NCBI36 |
| NG_008481.4:g.20288A>C , LRG_130:g.20288A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000505350.2:c.91A>C | ENSP00000481752.1:p.Arg31= | |
| ENST00000507379.6:c.91A>C | ENSP00000423224.2:p.Arg31= | |
| ENST00000509732.6:c.-19+159A>C | ENSP00000426541.2:n.-19+159A>C | |
| ENST00000505350.1:c.91A>C | ENSP00000481752.1:p.Arg31= | |
| ENST00000507379.5:c.91A>C | ENSP00000423224.1:p.Arg31= | |
| ENST00000509732.5:c.-19+159A>C | ENSP00000426541.1:n.-19+159A>C | |
| NM_001127511.2:c.91A>C | NP_001120983.2:p.Arg31= | |
| NM_001354895.1:c.-93A>C | NP_001341824.1:n.-93A>C | |
| NM_001354897.1:c.91A>C | NP_001341826.1:p.Arg31= | |
| NM_001354902.1:c.91A>C | NP_001341831.1:p.Arg31= | |
| NM_001127511.3:c.91A>C | NP_001120983.2:p.Arg31= | |
| NM_001354895.2:c.-93A>C | NP_001341824.1:n.-93A>C | |
| NM_001354897.2:c.91A>C | NP_001341826.1:p.Arg31= | |
| NM_001354902.2:c.91A>C | NP_001341831.1:p.Arg31= |