Linked Data
ClinVar Variation Id:
44406
dbSNP Id:
rs3734289
ExAC:
6:112435273 A / C
gnomAD v2:
6-112435273-A-C
gnomAD v3:
6-112114070-A-C
gnomAD v4:
6-112114070-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.112114070A>C , CM000668.2:g.112114070A>C | GRCh38 |
| NC_000006.11:g.112435273A>C , CM000668.1:g.112435273A>C | GRCh37 |
| NC_000006.10:g.112541966A>C | NCBI36 |
| NG_008209.1:g.145556T>G , LRG_433:g.145556T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230538.12:c.5326+6T>G MANE Select | ENSP00000230538.7:n.5326+6T>G | |
| ENST00000389463.9:c.5305+6T>G | ENSP00000374114.4:n.5305+6T>G | |
| ENST00000651529.1:c.1344+6T>G | ||
| ENST00000651860.1:c.3049+6T>G | ENSP00000498842.1:n.3049+6T>G | |
| ENST00000230538.11:c.5326+6T>G | ENSP00000230538.7:n.5326+6T>G | |
| ENST00000389463.8:c.5305+6T>G | ENSP00000374114.4:n.5305+6T>G | |
| ENST00000424408.6:c.5305+6T>G | ENSP00000416470.2:n.5305+6T>G | |
| ENST00000522006.5:c.5305+6T>G | ENSP00000429488.1:n.5305+6T>G | |
| NM_001105206.2:c.5326+6T>G | NP_001098676.2:n.5326+6T>G | |
| NM_001105207.2:c.5305+6T>G | NP_001098677.2:n.5305+6T>G | |
| NM_002290.4:c.5305+6T>G | NP_002281.3:n.5305+6T>G | |
| XM_005266983.3:c.5326+6T>G | XP_005267040.2:n.5326+6T>G | |
| XM_005266984.3:c.5326+6T>G | XP_005267041.2:n.5326+6T>G | |
| XM_005266983.4:c.5326+6T>G | XP_005267040.2:n.5326+6T>G | |
| XM_005266984.4:c.5326+6T>G | XP_005267041.2:n.5326+6T>G | |
| XM_017010854.2:c.5305+6T>G | XP_016866343.1:n.5305+6T>G | |
| XR_001743406.2:n.5463+6T>G | ||
| XR_001743407.2:n.5442+6T>G | ||
| NM_001105206.3:c.5326+6T>G MANE Select | NP_001098676.2:n.5326+6T>G | |
| NM_001105207.3:c.5305+6T>G | NP_001098677.2:n.5305+6T>G | |
| NM_002290.5:c.5305+6T>G | NP_002281.3:n.5305+6T>G |