Linked Data
dbSNP Id:
rs1064796673
gnomAD v2:
11-65635802-T-C
gnomAD v3:
11-65868331-T-C
gnomAD v4:
11-65868331-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65868331T>C , CM000673.2:g.65868331T>C | GRCh38 |
| NC_000011.9:g.65635802T>C , CM000673.1:g.65635802T>C | GRCh37 |
| NC_000011.8:g.65392378T>C | NCBI36 |
| NG_012304.2:g.9604A>G | |
| NG_053116.1:g.13270T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307998.11:c.938A>G MANE Select | ENSP00000309953.6:p.Asn313Ser | |
| ENST00000307998.10:c.938A>G | ENSP00000309953.6:p.Asn313Ser | |
| ENST00000525392.1:n.99A>G | ||
| ENST00000526628.5:n.1504A>G | ||
| ENST00000528176.5:c.938A>G | ENSP00000434151.1:p.Asn313Ser | |
| ENST00000528409.1:n.182A>G | ||
| ENST00000530806.5:c.-61A>G | ENSP00000436526.1:n.-61A>G | |
| ENST00000531005.5:n.1932A>G | ||
| ENST00000531645.5:c.86A>G | ENSP00000436521.1:p.Asn29Ser | |
| ENST00000531972.5:c.938A>G | ENSP00000435295.1:p.Asn313Ser | |
| ENST00000532084.5:n.364A>G | ||
| NM_016938.4:c.938A>G | NP_058634.4:p.Asn313Ser | |
| NR_037718.1:n.1197A>G | ||
| NM_016938.5:c.938A>G MANE Select | NP_058634.4:p.Asn313Ser | |
| NR_037718.2:n.1063A>G |