Linked Data
ClinVar Variation Id:
296080
ClinVar RCV Id:
RCV000306174
dbSNP Id:
rs377397992
ExAC:
1:230841920 C / A
gnomAD v2:
1-230841920-C-A
gnomAD v3:
1-230706174-C-A
gnomAD v4:
1-230706174-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.230706174C>A , CM000663.2:g.230706174C>A | GRCh38 |
| NC_000001.10:g.230841920C>A , CM000663.1:g.230841920C>A | GRCh37 |
| NC_000001.9:g.228908543C>A | NCBI36 |
| NG_008836.1:g.13417G>T | |
| NG_008836.2:g.13417G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366667.6:c.856G>T MANE Select | ENSP00000355627.5:p.Ala286Ser | |
| ENST00000679684.1:c.856G>T | ENSP00000505981.1:p.Ala286Ser | |
| ENST00000679738.1:c.856G>T | ENSP00000505063.1:p.Ala286Ser | |
| ENST00000679802.1:c.*315G>T | ENSP00000505184.1:n.*315G>T | |
| ENST00000679854.1:n.5161G>T | ||
| ENST00000679957.1:c.856G>T | ENSP00000506646.1:p.Ala286Ser | |
| ENST00000680041.1:c.856G>T | ENSP00000504866.1:p.Ala286Ser | |
| ENST00000680783.1:c.829+3821G>T | ENSP00000506329.1:n.829+3821G>T | |
| ENST00000681269.1:c.856G>T | ENSP00000505985.1:p.Ala286Ser | |
| ENST00000681347.1:n.1367G>T | ||
| ENST00000681514.1:c.856G>T | ENSP00000505963.1:p.Ala286Ser | |
| ENST00000681772.1:c.856G>T | ENSP00000505829.1:p.Ala286Ser | |
| ENST00000366667.4:c.883G>T | ENSP00000355627.4:p.Ala295Ser | |
| NM_000029.3:c.883G>T | NP_000020.1:p.Ala295Ser | |
| NM_000029.4:c.883G>T | NP_000020.1:p.Ala295Ser | |
| NM_001382817.3:c.856G>T | NP_001369746.2:p.Ala286Ser | |
| NM_001384479.1:c.856G>T MANE Select | NP_001371408.1:p.Ala286Ser |