Linked Data
ClinVar Variation Id:
1186819
ClinVar RCV Id:
RCV001546041
dbSNP Id:
rs115254628
gnomAD v2:
4-88929655-G-A
gnomAD v3:
4-88008503-G-A
gnomAD v4:
4-88008503-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88008503G>A , CM000666.2:g.88008503G>A | GRCh38 |
| NC_000004.11:g.88929655G>A , CM000666.1:g.88929655G>A | GRCh37 |
| NC_000004.10:g.89148679G>A | NCBI36 |
| NG_008604.1:g.5836G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237596.7:c.595+175G>A MANE Select | ENSP00000237596.2:n.595+175G>A | |
| ENST00000237596.6:c.595+175G>A | ENSP00000237596.2:n.595+175G>A | |
| ENST00000506727.1:n.97+175G>A | ||
| NM_000297.3:c.595+175G>A | NP_000288.1:n.595+175G>A | |
| XM_011532028.1:c.595+175G>A | XP_011530330.1:n.595+175G>A | |
| XR_244632.2:n.690+175G>A | ||
| NR_156488.1:n.682+175G>A | ||
| XM_011532028.2:c.595+175G>A | XP_011530330.1:n.595+175G>A | |
| NM_000297.4:c.595+175G>A MANE Select | NP_000288.1:n.595+175G>A | |
| NR_156488.2:n.694+175G>A |