Linked Data
ClinVar Variation Id:
321412
ClinVar RCV Id:
RCV000305603
dbSNP Id:
rs148003355
gnomAD v2:
16-89985553-G-A
gnomAD v3:
16-89919145-G-A
gnomAD v4:
16-89919145-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89919145G>A , CM000678.2:g.89919145G>A | GRCh38 |
| NC_000016.9:g.89985553G>A , CM000678.1:g.89985553G>A | GRCh37 |
| NC_000016.8:g.88513054G>A | NCBI36 |
| NG_012026.1:g.6267G>A | |
| NG_027810.1:g.2137G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555147.2:c.-114G>A MANE Select | ENSP00000451605.1:n.-114G>A | |
| ENST00000639847.1:c.-114G>A | ENSP00000492011.1:n.-114G>A | |
| ENST00000555147.1:c.-114G>A | ENSP00000451605.1:n.-114G>A | |
| ENST00000555427.1:c.-114G>A | ENSP00000451760.1:n.-114G>A | |
| NM_002386.3:c.-114G>A | NP_002377.4:n.-114G>A | |
| NM_002386.4:c.-114G>A MANE Select | NP_002377.4:n.-114G>A |