Linked Data
dbSNP Id:
rs3743200
gnomAD v2:
15-79274046-C-T
gnomAD v3:
15-78981704-C-T
gnomAD v4:
15-78981704-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.78981704C>T , CM000677.2:g.78981704C>T | GRCh38 |
| NC_000015.9:g.79274046C>T , CM000677.1:g.79274046C>T | GRCh37 |
| NC_000015.8:g.77061101C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000558480.7:c.3415-1005G>A MANE Select | ENSP00000452781.2:n.3415-1005G>A | |
| ENST00000394745.3:c.1111-1005G>A | ENSP00000378228.3:n.1111-1005G>A | |
| ENST00000419573.7:c.3463-1005G>A | ENSP00000405963.3:n.3463-1005G>A | |
| ENST00000558480.6:c.3415-1005G>A | ENSP00000452781.2:n.3415-1005G>A | |
| ENST00000560286.1:n.305-1005G>A | ||
| ENST00000560334.5:n.3285-1005G>A | ||
| ENST00000560943.5:n.620-1005G>A | ||
| NM_001145648.1:c.3415-1005G>A | NP_001139120.1:n.3415-1005G>A | |
| NM_002891.4:c.3463-1005G>A | NP_002882.3:n.3463-1005G>A | |
| NM_153815.2:c.1111-1005G>A | NP_722522.1:n.1111-1005G>A | |
| XM_005254578.3:c.3415-1005G>A | XP_005254635.1:n.3415-1005G>A | |
| XM_011521863.1:c.3463-1005G>A | XP_011520165.1:n.3463-1005G>A | |
| XM_011521864.1:c.3454-1005G>A | XP_011520166.1:n.3454-1005G>A | |
| XM_011521865.1:c.3424-1005G>A | XP_011520167.1:n.3424-1005G>A | |
| XM_011521866.1:c.3463-1005G>A | XP_011520168.1:n.3463-1005G>A | |
| XM_011521867.1:c.3463-1005G>A | XP_011520169.1:n.3463-1005G>A | |
| NR_148998.1:n.435+2381C>T | ||
| XM_011521866.3:c.3463-1005G>A | XP_011520168.1:n.3463-1005G>A | |
| XM_011521867.3:c.3463-1005G>A | XP_011520169.1:n.3463-1005G>A | |
| XM_017022455.2:c.3454-1005G>A | XP_016877944.1:n.3454-1005G>A | |
| XM_017022456.2:c.3424-1005G>A | XP_016877945.1:n.3424-1005G>A | |
| XM_017022457.2:c.3424-1005G>A | XP_016877946.1:n.3424-1005G>A | |
| XM_017022458.2:c.3415-1005G>A | XP_016877947.1:n.3415-1005G>A | |
| XM_017022459.2:c.3424-1005G>A | XP_016877948.1:n.3424-1005G>A | |
| NM_001145648.2:c.3415-1005G>A | NP_001139120.1:n.3415-1005G>A | |
| NM_002891.5:c.3463-1005G>A | NP_002882.3:n.3463-1005G>A | |
| NM_001145648.3:c.3415-1005G>A MANE Select | NP_001139120.1:n.3415-1005G>A | |
| NM_002891.6:c.3463-1005G>A | NP_002882.3:n.3463-1005G>A | |
| NM_153815.3:c.1111-1005G>A | NP_722522.1:n.1111-1005G>A |