Linked Data
ClinVar Variation Id:
1183257
ClinVar RCV Id:
RCV001541059
dbSNP Id:
rs77379037
gnomAD v2:
7-107350345-G-A
gnomAD v3:
7-107709900-G-A
gnomAD v4:
7-107709900-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107709900G>A , CM000669.2:g.107709900G>A | GRCh38 |
| NC_000007.13:g.107350345G>A , CM000669.1:g.107350345G>A | GRCh37 |
| NC_000007.12:g.107137581G>A | NCBI36 |
| NG_008489.1:g.54266G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644269.2:c.2090-154G>A MANE Select | ENSP00000494017.1:n.2090-154G>A | |
| ENST00000644846.1:c.746-154G>A | ||
| ENST00000265715.7:c.2090-154G>A | ENSP00000265715.3:n.2090-154G>A | |
| ENST00000492030.2:n.377-255G>A | ||
| NM_000441.1:c.2090-154G>A | NP_000432.1:n.2090-154G>A | |
| XM_005250425.1:c.2090-154G>A | XP_005250482.1:n.2090-154G>A | |
| XM_005250425.2:c.2090-154G>A | XP_005250482.1:n.2090-154G>A | |
| XM_017012318.1:c.2012-154G>A | XP_016867807.1:n.2012-154G>A | |
| NM_000441.2:c.2090-154G>A MANE Select | NP_000432.1:n.2090-154G>A |