Linked Data
ClinVar Variation Id:
349772
dbSNP Id:
rs765550592
ExAC:
4:79403535 C / T
gnomAD v2:
4-79403535-C-T
gnomAD v3:
4-78482381-C-T
gnomAD v4:
4-78482381-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78482381C>T , CM000666.2:g.78482381C>T | GRCh38 |
| NC_000004.11:g.79403535C>T , CM000666.1:g.79403535C>T | GRCh37 |
| NC_000004.10:g.79622559C>T | NCBI36 |
| NG_015812.1:g.429812C>T | |
| NG_015812.2:g.429812C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682513.1:c.8605-7C>T | ENSP00000508201.1:n.8605-7C>T | |
| ENST00000512123.4:c.8605-7C>T MANE Select | ENSP00000422834.2:n.8605-7C>T | |
| ENST00000512123.3:c.8605-7C>T | ENSP00000422834.2:n.8605-7C>T | |
| NM_025074.6:c.8605-7C>T | NP_079350.5:n.8605-7C>T | |
| XM_006714314.1:c.8599-7C>T | XP_006714377.1:n.8599-7C>T | |
| XM_006714316.1:c.8377-7C>T | XP_006714379.1:n.8377-7C>T | |
| XM_011532270.1:c.6304-7C>T | XP_011530572.1:n.6304-7C>T | |
| XM_011532271.1:c.3493-7C>T | XP_011530573.1:n.3493-7C>T | |
| XM_006714316.3:c.8377-7C>T | XP_006714379.1:n.8377-7C>T | |
| NM_025074.7:c.8605-7C>T MANE Select | NP_079350.5:n.8605-7C>T |