Linked Data
ClinVar Variation Id:
1318535
dbSNP Id:
rs976132108
gnomAD v3:
5-112843783-C-A
gnomAD v4:
5-112843783-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.112843783C>A , CM000667.2:g.112843783C>A | GRCh38 |
| NC_000005.9:g.112179480C>A , CM000667.1:g.112179480C>A | GRCh37 |
| NC_000005.8:g.112207379C>A | NCBI36 |
| NG_008481.4:g.156263C>A , LRG_130:g.156263C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504915.3:c.8243C>A | ENSP00000473355.2:p.Ala2748Asp | |
| ENST00000505350.2:c.*8195C>A | ENSP00000481752.1:n.*8195C>A | |
| ENST00000507379.6:c.8135C>A | ENSP00000423224.2:p.Ala2712Asp | |
| ENST00000509732.6:c.8189C>A | ENSP00000426541.2:p.Ala2730Asp | |
| ENST00000512211.7:c.8189C>A | ENSP00000423828.3:p.Ala2730Asp | |
| ENST00000257430.9:c.8189C>A MANE Select | ENSP00000257430.4:p.Ala2730Asp | |
| ENST00000257430.8:c.8189C>A | ENSP00000257430.4:p.Ala2730Asp | |
| ENST00000508376.6:c.8189C>A | ENSP00000427089.2:p.Ala2730Asp | |
| ENST00000520401.1:c.231-12866C>A | ||
| NM_000038.5:c.8189C>A | NP_000029.2:p.Ala2730Asp | |
| NM_001127510.2:c.8189C>A | NP_001120982.1:p.Ala2730Asp | |
| NM_001127511.2:c.8135C>A | NP_001120983.2:p.Ala2712Asp | |
| NM_001354895.1:c.8189C>A | NP_001341824.1:p.Ala2730Asp | |
| NM_001354896.1:c.8243C>A | NP_001341825.1:p.Ala2748Asp | |
| NM_001354897.1:c.8219C>A | NP_001341826.1:p.Ala2740Asp | |
| NM_001354898.1:c.8114C>A | NP_001341827.1:p.Ala2705Asp | |
| NM_001354899.1:c.8105C>A | NP_001341828.1:p.Ala2702Asp | |
| NM_001354900.1:c.8066C>A | NP_001341829.1:p.Ala2689Asp | |
| NM_001354901.1:c.8012C>A | NP_001341830.1:p.Ala2671Asp | |
| NM_001354902.1:c.7916C>A | NP_001341831.1:p.Ala2639Asp | |
| NM_001354903.1:c.7886C>A | NP_001341832.1:p.Ala2629Asp | |
| NM_001354904.1:c.7811C>A | NP_001341833.1:p.Ala2604Asp | |
| NM_001354905.1:c.7709C>A | NP_001341834.1:p.Ala2570Asp | |
| NM_001354906.1:c.7340C>A | NP_001341835.1:p.Ala2447Asp | |
| NM_000038.6:c.8189C>A MANE Select | NP_000029.2:p.Ala2730Asp | |
| NM_001127510.3:c.8189C>A | NP_001120982.1:p.Ala2730Asp | |
| NM_001127511.3:c.8135C>A | NP_001120983.2:p.Ala2712Asp | |
| NM_001354895.2:c.8189C>A | NP_001341824.1:p.Ala2730Asp | |
| NM_001354896.2:c.8243C>A | NP_001341825.1:p.Ala2748Asp | |
| NM_001354897.2:c.8219C>A | NP_001341826.1:p.Ala2740Asp | |
| NM_001354898.2:c.8114C>A | NP_001341827.1:p.Ala2705Asp | |
| NM_001354899.2:c.8105C>A | NP_001341828.1:p.Ala2702Asp | |
| NM_001354900.2:c.8066C>A | NP_001341829.1:p.Ala2689Asp | |
| NM_001354901.2:c.8012C>A | NP_001341830.1:p.Ala2671Asp | |
| NM_001354902.2:c.7916C>A | NP_001341831.1:p.Ala2639Asp | |
| NM_001354903.2:c.7886C>A | NP_001341832.1:p.Ala2629Asp | |
| NM_001354904.2:c.7811C>A | NP_001341833.1:p.Ala2604Asp | |
| NM_001354905.2:c.7709C>A | NP_001341834.1:p.Ala2570Asp | |
| NM_001354906.2:c.7340C>A | NP_001341835.1:p.Ala2447Asp |