Linked Data
ClinVar Variation Id:
1181969
ClinVar RCV Id:
RCV001539476
dbSNP Id:
rs1864163
gnomAD v2:
16-56997233-G-A
gnomAD v3:
16-56963321-G-A
gnomAD v4:
16-56963321-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56963321G>A , CM000678.2:g.56963321G>A | GRCh38 |
| NC_000016.9:g.56997233G>A , CM000678.1:g.56997233G>A | GRCh37 |
| NC_000016.8:g.55554734G>A | NCBI36 |
| NG_008952.1:g.6399G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000200676.8:c.233+197G>A MANE Select | ENSP00000200676.3:n.233+197G>A | |
| ENST00000200676.7:c.233+197G>A | ENSP00000200676.3:n.233+197G>A | |
| ENST00000379780.6:c.233+197G>A | ENSP00000369106.2:n.233+197G>A | |
| ENST00000566128.1:c.38+197G>A | ENSP00000456276.1:n.38+197G>A | |
| ENST00000569082.1:n.231+197G>A | ||
| NM_000078.2:c.233+197G>A | NP_000069.2:n.233+197G>A | |
| NM_001286085.1:c.233+197G>A | NP_001273014.1:n.233+197G>A | |
| XM_006721124.2:c.233+197G>A | XP_006721187.1:n.233+197G>A | |
| XM_006721124.3:c.233+197G>A | XP_006721187.1:n.233+197G>A | |
| NM_000078.3:c.233+197G>A MANE Select | NP_000069.2:n.233+197G>A | |
| NM_001286085.2:c.233+197G>A | NP_001273014.1:n.233+197G>A |