Linked Data
ClinVar Variation Id:
349798
dbSNP Id:
rs139412411
ExAC:
4:79440479 C / T
gnomAD v2:
4-79440479-C-T
gnomAD v3:
4-78519325-C-T
gnomAD v4:
4-78519325-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78519325C>T , CM000666.2:g.78519325C>T | GRCh38 |
| NC_000004.11:g.79440479C>T , CM000666.1:g.79440479C>T | GRCh37 |
| NC_000004.10:g.79659503C>T | NCBI36 |
| NG_015812.1:g.466756C>T | |
| NG_015812.2:g.466756C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000512123.4:c.10390-6C>T MANE Select | ENSP00000422834.2:n.10390-6C>T | |
| ENST00000512123.3:c.10390-6C>T | ENSP00000422834.2:n.10390-6C>T | |
| NM_025074.6:c.10390-6C>T | NP_079350.5:n.10390-6C>T | |
| XM_006714314.1:c.10384-6C>T | XP_006714377.1:n.10384-6C>T | |
| XM_006714316.1:c.10162-6C>T | XP_006714379.1:n.10162-6C>T | |
| XM_011532270.1:c.8089-6C>T | XP_011530572.1:n.8089-6C>T | |
| XM_011532271.1:c.5278-6C>T | XP_011530573.1:n.5278-6C>T | |
| XM_006714316.3:c.10162-6C>T | XP_006714379.1:n.10162-6C>T | |
| NM_025074.7:c.10390-6C>T MANE Select | NP_079350.5:n.10390-6C>T |