Linked Data
dbSNP Id:
rs184167704
gnomAD v2:
2-102610743-A-G
gnomAD v3:
2-101994281-A-G
gnomAD v4:
2-101994281-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.101994281A>G , CM000664.2:g.101994281A>G | GRCh38 |
| NC_000002.11:g.102610743A>G , CM000664.1:g.102610743A>G | GRCh37 |
| NC_000002.10:g.101977175A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332549.8:c.-62+2270A>G MANE Select | ENSP00000330959.3:n.-62+2270A>G | |
| ENST00000332549.7:c.-62+2270A>G | ENSP00000330959.3:n.-62+2270A>G | |
| ENST00000464994.5:n.74+2248A>G | ||
| ENST00000493749.1:n.52+2270A>G | ||
| NM_001261419.1:c.-62+2270A>G | NP_001248348.1:n.-62+2270A>G | |
| NM_004633.3:c.-62+2270A>G | NP_004624.1:n.-62+2270A>G | |
| XM_006712734.2:c.-62+2285A>G | XP_006712797.1:n.-62+2285A>G | |
| XM_006712736.2:c.14+2248A>G | XP_006712799.1:n.14+2248A>G | |
| XM_006712734.3:c.-62+2285A>G | XP_006712797.1:n.-62+2285A>G | |
| XM_006712736.3:c.14+2248A>G | XP_006712799.1:n.14+2248A>G | |
| XM_017004889.1:c.-189+2270A>G | XP_016860378.1:n.-189+2270A>G | |
| XM_024453129.1:c.-157+2285A>G | XP_024308897.1:n.-157+2285A>G | |
| NM_004633.4:c.-62+2270A>G MANE Select | NP_004624.1:n.-62+2270A>G | |
| NM_001261419.2:c.-62+2270A>G | NP_001248348.1:n.-62+2270A>G |