Linked Data
ClinVar Variation Id:
305380
dbSNP Id:
rs142509316
ExAC:
11:65635855 G / A
gnomAD v2:
11-65635855-G-A
gnomAD v3:
11-65868384-G-A
gnomAD v4:
11-65868384-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65868384G>A , CM000673.2:g.65868384G>A | GRCh38 |
| NC_000011.9:g.65635855G>A , CM000673.1:g.65635855G>A | GRCh37 |
| NC_000011.8:g.65392431G>A | NCBI36 |
| NG_012304.2:g.9551C>T | |
| NG_053116.1:g.13323G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307998.11:c.885C>T MANE Select | ENSP00000309953.6:p.Ser295= | |
| ENST00000307998.10:c.885C>T | ENSP00000309953.6:p.Ser295= | |
| ENST00000525392.1:n.46C>T | ||
| ENST00000526628.5:n.1451C>T | ||
| ENST00000528176.5:c.885C>T | ENSP00000434151.1:p.Ser295= | |
| ENST00000528409.1:n.129C>T | ||
| ENST00000530806.5:c.-114C>T | ENSP00000436526.1:n.-114C>T | |
| ENST00000531005.5:n.1879C>T | ||
| ENST00000531645.5:c.33C>T | ENSP00000436521.1:p.Ser11= | |
| ENST00000531972.5:c.885C>T | ENSP00000435295.1:p.Ser295= | |
| ENST00000532084.5:n.311C>T | ||
| NM_016938.4:c.885C>T | NP_058634.4:p.Ser295= | |
| NR_037718.1:n.1144C>T | ||
| NM_016938.5:c.885C>T MANE Select | NP_058634.4:p.Ser295= | |
| NR_037718.2:n.1010C>T |