Linked Data
dbSNP Id:
rs11819364
gnomAD v2:
10-129043310-A-C
gnomAD v3:
10-127245046-A-C
gnomAD v4:
10-127245046-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.127245046A>C , CM000672.2:g.127245046A>C | GRCh38 |
| NC_000010.10:g.129043310A>C , CM000672.1:g.129043310A>C | GRCh37 |
| NC_000010.9:g.128933300A>C | NCBI36 |
| NG_033919.1:g.344593A>C | |
| NG_033919.2:g.344593A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000623213.2:c.2848-2962A>C MANE Select | ENSP00000485033.1:n.2848-2962A>C | |
| ENST00000280333.9:c.2785-2962A>C | ENSP00000280333.6:n.2785-2962A>C | |
| ENST00000623213.1:c.2848-2962A>C | ENSP00000485033.1:n.2848-2962A>C | |
| NM_001290223.1:c.2848-2962A>C | NP_001277152.1:n.2848-2962A>C | |
| NM_001380.4:c.2785-2962A>C | NP_001371.1:n.2785-2962A>C | |
| XM_011539421.1:c.2965-2962A>C | XP_011537723.1:n.2965-2962A>C | |
| XM_011539422.1:c.2914-2962A>C | XP_011537724.1:n.2914-2962A>C | |
| XM_011539423.1:c.2902-2962A>C | XP_011537725.1:n.2902-2962A>C | |
| XM_011539424.1:c.2830-2962A>C | XP_011537726.1:n.2830-2962A>C | |
| XM_011539425.1:c.2965-2962A>C | XP_011537727.1:n.2965-2962A>C | |
| XM_011539422.3:c.2914-2962A>C | XP_011537724.1:n.2914-2962A>C | |
| XM_017015813.2:c.2851-2962A>C | XP_016871302.1:n.2851-2962A>C | |
| XM_017015814.1:c.2914-2962A>C | XP_016871303.1:n.2914-2962A>C | |
| XM_017015815.1:c.2848-2962A>C | XP_016871304.1:n.2848-2962A>C | |
| XM_024447859.1:c.328-2962A>C | XP_024303627.1:n.328-2962A>C | |
| NM_001290223.2:c.2848-2962A>C MANE Select | NP_001277152.2:n.2848-2962A>C | |
| NM_001377543.1:c.2785-2962A>C | NP_001364472.1:n.2785-2962A>C | |
| NM_001377544.1:c.2821-2962A>C | NP_001364473.1:n.2821-2962A>C | |
| NM_001377546.1:c.2848-2962A>C | NP_001364475.1:n.2848-2962A>C | |
| NM_001377547.1:c.2722-2962A>C | NP_001364476.1:n.2722-2962A>C | |
| NM_001377548.1:c.2701-2962A>C | NP_001364477.1:n.2701-2962A>C | |
| NM_001377550.1:c.2686-2962A>C | NP_001364479.1:n.2686-2962A>C | |
| NM_001377553.1:c.2785-2962A>C | NP_001364482.1:n.2785-2962A>C | |
| NM_001377554.1:c.2632-2962A>C | NP_001364483.1:n.2632-2962A>C | |
| NM_001377556.1:c.2785-2962A>C | NP_001364485.1:n.2785-2962A>C | |
| NM_001377558.1:c.2578-2962A>C | NP_001364487.1:n.2578-2962A>C | |
| NM_001377560.1:c.1993-2962A>C | NP_001364489.1:n.1993-2962A>C | |
| NM_001377561.1:c.2848-2962A>C | NP_001364490.1:n.2848-2962A>C | |
| NM_001380.5:c.2785-2962A>C | NP_001371.2:n.2785-2962A>C |