gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.15305380G>A , CM000671.2:g.15305380G>A | GRCh38 |
| NC_000009.11:g.15305378G>A , CM000671.1:g.15305378G>A | GRCh37 |
| NC_000009.10:g.15295378G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297615.10:c.42+1704C>T | ENSP00000297615.6:n.42+1704C>T | |
| ENST00000380850.9:c.42+1704C>T | ENSP00000370231.5:n.42+1704C>T | |
| ENST00000512701.7:c.42+1704C>T MANE Select | ENSP00000422496.2:n.42+1704C>T | |
| ENST00000297615.9:c.240+1704C>T | ENSP00000297615.5:n.240+1704C>T | |
| ENST00000380850.8:c.240+1704C>T | ENSP00000370231.4:n.240+1704C>T | |
| ENST00000505732.5:n.277+1704C>T | ||
| ENST00000506891.1:c.126+1704C>T | ENSP00000427314.1:n.126+1704C>T | |
| ENST00000512701.6:c.240+1704C>T | ENSP00000422496.1:n.240+1704C>T | |
| NM_001168339.1:c.240+1704C>T | NP_001161811.1:n.240+1704C>T | |
| NM_001168340.1:c.240+1704C>T | NP_001161812.1:n.240+1704C>T | |
| NM_001168341.1:c.240+1704C>T | NP_001161813.1:n.240+1704C>T | |
| NM_152574.2:c.240+1704C>T | NP_689787.2:n.240+1704C>T | |
| XM_011517733.1:c.240+1704C>T | XP_011516035.1:n.240+1704C>T | |
| XR_001746190.1:n.277+1704C>T | ||
| NM_001168339.2:c.42+1704C>T | NP_001161811.2:n.42+1704C>T | |
| NM_001168340.2:c.42+1704C>T | NP_001161812.2:n.42+1704C>T | |
| NM_001168341.2:c.42+1704C>T | NP_001161813.2:n.42+1704C>T | |
| NM_152574.3:c.42+1704C>T MANE Select | NP_689787.3:n.42+1704C>T |