Linked Data
ClinVar Variation Id:
313428
ClinVar RCV Id:
RCV000315480
dbSNP Id:
rs886050562
gnomAD v2:
14-60976003-G-A
gnomAD v3:
14-60509285-G-A
gnomAD v4:
14-60509285-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.60509285G>A , CM000676.2:g.60509285G>A | GRCh38 |
| NC_000014.8:g.60976003G>A , CM000676.1:g.60976003G>A | GRCh37 |
| NC_000014.7:g.60045756G>A | NCBI36 |
| NG_008203.1:g.5066G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327720.6:c.-114G>A (SIX6) MANE Select | ENSP00000328596.5:n.-114G>A | |
| ENST00000327720.5:c.-114G>A (SIX6) | ENSP00000328596.5:n.-114G>A | |
| ENST00000556799.1:c.-144+6110C>T (C14orf39) | ENSP00000451441.1:n.-144+6110C>T | |
| NM_007374.2:c.-114G>A (SIX6) | NP_031400.2:n.-114G>A | |
| NM_007374.3:c.-114G>A (SIX6) MANE Select | NP_031400.2:n.-114G>A |