Linked Data
dbSNP Id:
rs374132531
gnomAD v2:
1-84566630-G-A
gnomAD v3:
1-84100947-G-A
gnomAD v4:
1-84100947-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.84100947G>A , CM000663.2:g.84100947G>A | GRCh38 |
| NC_000001.10:g.84566630G>A , CM000663.1:g.84566630G>A | GRCh37 |
| NC_000001.9:g.84339218G>A | NCBI36 |
| NG_029728.1:g.27886G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370688.7:c.46+22576G>A | ENSP00000359722.3:n.46+22576G>A | |
| ENST00000370689.6:c.46+22576G>A | ENSP00000359723.2:n.46+22576G>A | |
| NM_002731.3:c.46+22576G>A | NP_002722.1:n.46+22576G>A | |
| NM_207578.2:c.46+22576G>A | NP_997461.1:n.46+22576G>A | |
| XM_011541764.1:c.46+22576G>A | XP_011540066.1:n.46+22576G>A | |
| XM_017001713.2:c.46+22576G>A | XP_016857202.1:n.46+22576G>A | |
| NM_001375576.1:c.46+22576G>A | NP_001362505.1:n.46+22576G>A | |
| NM_207578.3:c.46+22576G>A | NP_997461.1:n.46+22576G>A | |
| NM_002731.4:c.46+22576G>A | NP_002722.1:n.46+22576G>A |