Linked Data
dbSNP Id:
rs1998359
gnomAD v2:
14-38077148-C-G
gnomAD v3:
14-37607943-C-G
gnomAD v4:
14-37607943-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.37607943C>G , CM000676.2:g.37607943C>G | GRCh38 |
| NC_000014.8:g.38077148C>G , CM000676.1:g.38077148C>G | GRCh37 |
| NC_000014.7:g.37146899C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553443.6:c.-16+1201C>G MANE Select | ENSP00000451131.1:n.-16+1201C>G | |
| ENST00000556845.1:c.-155+1201C>G | ENSP00000450572.1:n.-155+1201C>G | |
| NM_001310135.1:c.33+1201C>G | NP_001297064.1:n.33+1201C>G | |
| XM_011537432.1:c.33+1201C>G | XP_011535734.1:n.33+1201C>G | |
| XR_943762.1:n.890+1201C>G | ||
| XM_011537432.2:c.33+1201C>G | XP_011535734.1:n.33+1201C>G | |
| XM_017021254.1:c.33+1201C>G | XP_016876743.1:n.33+1201C>G | |
| XM_017021255.1:c.33+1201C>G | XP_016876744.1:n.33+1201C>G | |
| XM_017021257.1:c.33+1201C>G | XP_016876746.1:n.33+1201C>G | |
| XM_024449560.1:c.33+1201C>G | XP_024305328.1:n.33+1201C>G | |
| XR_001750287.1:n.890+1201C>G | ||
| XR_943762.2:n.890+1201C>G | ||
| NM_001310135.2:c.33+1201C>G | NP_001297064.1:n.33+1201C>G | |
| NM_001310135.3:c.33+1201C>G | NP_001297064.1:n.33+1201C>G | |
| NM_001310135.5:c.-16+1201C>G MANE Select | NP_001297064.2:n.-16+1201C>G |