Linked Data
dbSNP Id:
rs12132032
gnomAD v2:
1-84566589-A-G
gnomAD v3:
1-84100906-A-G
gnomAD v4:
1-84100906-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.84100906A>G , CM000663.2:g.84100906A>G | GRCh38 |
| NC_000001.10:g.84566589A>G , CM000663.1:g.84566589A>G | GRCh37 |
| NC_000001.9:g.84339177A>G | NCBI36 |
| NG_029728.1:g.27845A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370688.7:c.46+22535A>G | ENSP00000359722.3:n.46+22535A>G | |
| ENST00000370689.6:c.46+22535A>G | ENSP00000359723.2:n.46+22535A>G | |
| NM_002731.3:c.46+22535A>G | NP_002722.1:n.46+22535A>G | |
| NM_207578.2:c.46+22535A>G | NP_997461.1:n.46+22535A>G | |
| XM_011541764.1:c.46+22535A>G | XP_011540066.1:n.46+22535A>G | |
| XM_017001713.2:c.46+22535A>G | XP_016857202.1:n.46+22535A>G | |
| NM_001375576.1:c.46+22535A>G | NP_001362505.1:n.46+22535A>G | |
| NM_207578.3:c.46+22535A>G | NP_997461.1:n.46+22535A>G | |
| NM_002731.4:c.46+22535A>G | NP_002722.1:n.46+22535A>G |