Linked Data
ClinVar Variation Id:
507743
ClinVar RCV Id:
RCV000606497
dbSNP Id:
rs1017986679
gnomAD v2:
6-30882113-G-A
gnomAD v3:
6-30914336-G-A
gnomAD v4:
6-30914336-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30914336G>A , CM000668.2:g.30914336G>A | GRCh38 |
| NC_000006.11:g.30882113G>A , CM000668.1:g.30882113G>A | GRCh37 |
| NC_000006.10:g.30990092G>A | NCBI36 |
| NG_034224.1:g.5129G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541562.6:c.-166G>A | ENSP00000441000.2:n.-166G>A | |
| ENST00000672801.1:c.-501G>A | ENSP00000500615.1:n.-501G>A | |
| ENST00000676266.1:c.-36G>A MANE Select | ENSP00000502585.1:n.-36G>A | |
| ENST00000321897.9:c.-501G>A | ENSP00000316092.5:n.-501G>A | |
| ENST00000428017.5:c.-41G>A | ENSP00000403749.1:n.-41G>A | |
| ENST00000467717.5:n.71G>A | ||
| ENST00000477288.5:n.2088G>A | ||
| ENST00000541562.5:c.-76G>A | ENSP00000441000.1:n.-76G>A | |
| ENST00000542001.5:c.-501G>A | ENSP00000438200.2:n.-501G>A | |
| ENST00000625423.2:c.-228G>A | ENSP00000485818.1:n.-228G>A | |
| NM_001167733.2:c.-228G>A | NP_001161205.1:n.-228G>A | |
| NM_001167734.1:c.-76G>A | NP_001161206.1:n.-76G>A | |
| NM_020442.5:c.-36G>A | NP_065175.4:n.-36G>A | |
| NM_001167733.3:c.-228G>A | NP_001161205.1:n.-228G>A | |
| NM_001167734.2:c.-76G>A | NP_001161206.1:n.-76G>A | |
| NM_020442.6:c.-36G>A MANE Select | NP_065175.4:n.-36G>A |