Linked Data
ClinVar Variation Id:
445796
dbSNP Id:
rs146737847
ExAC:
14:60976501 G / A
gnomAD v2:
14-60976501-G-A
gnomAD v3:
14-60509783-G-A
gnomAD v4:
14-60509783-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.60509783G>A , CM000676.2:g.60509783G>A | GRCh38 |
| NC_000014.8:g.60976501G>A , CM000676.1:g.60976501G>A | GRCh37 |
| NC_000014.7:g.60046254G>A | NCBI36 |
| NG_008203.1:g.5564G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000327720.6:c.385G>A (SIX6) MANE Select | ENSP00000328596.5:p.Glu129Lys | |
| ENST00000327720.5:c.385G>A (SIX6) | ENSP00000328596.5:p.Glu129Lys | |
| ENST00000556799.1:c.-144+5612C>T (C14orf39) | ENSP00000451441.1:n.-144+5612C>T | |
| NM_007374.2:c.385G>A (SIX6) | NP_031400.2:p.Glu129Lys | |
| NM_007374.3:c.385G>A (SIX6) MANE Select | NP_031400.2:p.Glu129Lys |