Linked Data
dbSNP Id:
rs1061758
gnomAD v2:
9-34652330-A-G
gnomAD v3:
9-34652333-A-G
gnomAD v4:
9-34652333-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34652333A>G , CM000671.2:g.34652333A>G | GRCh38 |
| NC_000009.11:g.34652330A>G , CM000671.1:g.34652330A>G | GRCh37 |
| NC_000009.10:g.34642330A>G | NCBI36 |
| NG_009029.1:g.10696A>G | |
| NG_028966.1:g.5149A>G | |
| NG_009029.2:g.10745A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553620.6:c.-1+100A>G | ENSP00000452207.2:n.-1+100A>G | |
| ENST00000555003.6:c.-1+100A>G | ENSP00000450565.2:n.-1+100A>G | |
| ENST00000556531.6:c.-1+100A>G | ENSP00000451447.2:n.-1+100A>G | |
| ENST00000684861.1:n.53+100A>G | ||
| ENST00000690286.1:c.-86+100A>G | ENSP00000509204.1:n.-86+100A>G | |
| ENST00000691183.1:c.*2336+276A>G | ENSP00000509954.1:n.*2336+276A>G | |
| ENST00000692291.1:n.48+100A>G | ||
| ENST00000692530.1:n.61+100A>G | ||
| ENST00000441545.7:c.-1+100A>G MANE Select | ENSP00000394391.3:n.-1+100A>G | |
| ENST00000441545.6:c.-1+100A>G | ENSP00000394391.2:n.-1+100A>G | |
| ENST00000553620.5:c.-1+100A>G | ENSP00000452207.1:n.-1+100A>G | |
| ENST00000555003.5:c.-1+276A>G | ENSP00000450565.1:n.-1+276A>G | |
| ENST00000555247.5:c.-1+100A>G | ENSP00000450707.1:n.-1+100A>G | |
| ENST00000556278.1:c.433-2885A>G | ENSP00000451792.1:n.433-2885A>G | |
| NM_001142784.2:c.-1+100A>G | NP_001136256.1:n.-1+100A>G | |
| NM_001142784.3:c.-1+100A>G MANE Select | NP_001136256.1:n.-1+100A>G |