Linked Data
ClinVar Variation Id:
1271171
ClinVar RCV Id:
RCV001680692
dbSNP Id:
rs35431794
gnomAD v2:
9-75420528-T-G
gnomAD v3:
9-72805612-T-G
gnomAD v4:
9-72805612-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.72805612T>G , CM000671.2:g.72805612T>G | GRCh38 |
| NC_000009.11:g.75420528T>G , CM000671.1:g.75420528T>G | GRCh37 |
| NC_000009.10:g.74610348T>G | NCBI36 |
| NG_008213.1:g.288812T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297784.10:c.1695+102T>G MANE Select | ENSP00000297784.6:n.1695+102T>G | |
| ENST00000644967.1:c.1257+102T>G | ENSP00000496159.1:n.1257+102T>G | |
| ENST00000645053.1:c.1257+102T>G | ENSP00000493838.1:n.1257+102T>G | |
| ENST00000645208.2:c.1695+102T>G | ENSP00000494684.1:n.1695+102T>G | |
| ENST00000645773.1:c.1569+102T>G | ENSP00000493698.1:n.1569+102T>G | |
| ENST00000645787.1:n.1838+102T>G | ||
| ENST00000646619.1:c.1257+102T>G | ENSP00000493726.1:n.1257+102T>G | |
| ENST00000651183.1:c.1257+102T>G | ENSP00000498723.1:n.1257+102T>G | |
| ENST00000297784.9:c.1695+102T>G | ENSP00000297784.5:n.1695+102T>G | |
| ENST00000340019.4:c.1695+102T>G | ENSP00000341433.3:n.1695+102T>G | |
| ENST00000486417.5:n.319+102T>G | ||
| NM_138691.2:c.1695+102T>G | NP_619636.2:n.1695+102T>G | |
| XM_011518213.1:c.2283+102T>G | XP_011516515.1:n.2283+102T>G | |
| XM_017014256.1:c.1698+102T>G | XP_016869745.1:n.1698+102T>G | |
| NM_138691.3:c.1695+102T>G MANE Select | NP_619636.2:n.1695+102T>G |