Linked Data
dbSNP Id:
rs11887277
gnomAD v2:
2-27083269-T-C
gnomAD v3:
2-26860401-T-C
gnomAD v4:
2-26860401-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26860401T>C , CM000664.2:g.26860401T>C | GRCh38 |
| NC_000002.11:g.27083269T>C , CM000664.1:g.27083269T>C | GRCh37 |
| NC_000002.10:g.26936773T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000288699.11:c.-5+12147T>C MANE Select | ENSP00000288699.6:n.-5+12147T>C | |
| ENST00000288699.10:c.-5+12147T>C | ENSP00000288699.6:n.-5+12147T>C | |
| ENST00000401478.5:c.-5+12042T>C | ENSP00000385549.1:n.-5+12042T>C | |
| ENST00000431402.5:c.-5+11904T>C | ENSP00000399581.1:n.-5+11904T>C | |
| ENST00000434719.1:c.-5+11862T>C | ENSP00000413075.1:n.-5+11862T>C | |
| ENST00000450961.5:c.-5+12534T>C | ENSP00000407174.1:n.-5+12534T>C | |
| ENST00000614712.4:c.-5+11904T>C | ENSP00000481305.1:n.-5+11904T>C | |
| NM_001253723.1:c.-5+12042T>C | NP_001240652.1:n.-5+12042T>C | |
| NM_001253724.1:c.-5+11904T>C | NP_001240653.1:n.-5+11904T>C | |
| NM_020134.3:c.-5+12147T>C | NP_064519.2:n.-5+12147T>C | |
| XM_024453007.1:c.-5+10901T>C | XP_024308775.1:n.-5+10901T>C | |
| XR_001738852.2:n.153+12147T>C | ||
| NM_020134.4:c.-5+12147T>C MANE Select | NP_064519.2:n.-5+12147T>C | |
| NM_001253723.2:c.-5+12042T>C | NP_001240652.1:n.-5+12042T>C | |
| NM_001253724.2:c.-5+11904T>C | NP_001240653.1:n.-5+11904T>C |