Linked Data
dbSNP Id:
rs749221436
ExAC:
8:87752009 A / C
gnomAD v2:
8-87752009-A-C
gnomAD v3:
8-86739781-A-C
gnomAD v4:
8-86739781-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86739781A>C , CM000670.2:g.86739781A>C | GRCh38 |
| NC_000008.10:g.87752009A>C , CM000670.1:g.87752009A>C | GRCh37 |
| NC_000008.9:g.87821125A>C | NCBI36 |
| NG_016980.1:g.8895T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.130-45T>G MANE Select | ENSP00000316605.5:n.130-45T>G | |
| ENST00000681746.1:c.130-45T>G | ENSP00000505959.1:n.130-45T>G | |
| ENST00000320005.5:c.130-45T>G | ENSP00000316605.5:n.130-45T>G | |
| ENST00000519777.1:n.112-45T>G | ||
| NM_019098.4:c.130-45T>G | NP_061971.3:n.130-45T>G | |
| NM_019098.5:c.130-45T>G MANE Select | NP_061971.3:n.130-45T>G |