Linked Data
ClinVar Variation Id:
2989742
ClinVar RCV Id:
RCV003842373
dbSNP Id:
rs761683426
ExAC:
1:36602872 C / T
gnomAD v2:
1-36602872-C-T
gnomAD v3:
1-36137271-C-T
gnomAD v4:
1-36137271-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.36137271C>T , CM000663.2:g.36137271C>T | GRCh38 |
| NC_000001.10:g.36602872C>T , CM000663.1:g.36602872C>T | GRCh37 |
| NC_000001.9:g.36375459C>T | NCBI36 |
| NG_052857.1:g.23783G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373166.8:c.475G>A MANE Select | ENSP00000362261.3:p.Gly159Ser | |
| ENST00000373162.5:c.337G>A | ENSP00000362256.1:p.Gly113Ser | |
| ENST00000373163.5:c.337G>A | ENSP00000362257.1:p.Gly113Ser | |
| ENST00000373166.7:c.475G>A | ENSP00000362261.3:p.Gly159Ser | |
| ENST00000462715.1:n.1738G>A | ||
| ENST00000469757.1:n.212G>A | ||
| ENST00000616074.4:c.277G>A | ENSP00000482052.1:p.Gly93Ser | |
| ENST00000616395.4:c.499G>A | ENSP00000480332.1:p.Gly167Ser | |
| ENST00000617904.4:c.337G>A | ENSP00000480648.1:p.Gly113Ser | |
| NM_001270894.1:c.499G>A | NP_001257823.1:p.Gly167Ser | |
| NM_001270895.1:c.337G>A | NP_001257824.1:p.Gly113Ser | |
| NM_001270896.1:c.337G>A | NP_001257825.1:p.Gly113Ser | |
| NM_001270897.1:c.277G>A | NP_001257826.1:p.Gly93Ser | |
| NM_014408.4:c.475G>A | NP_055223.1:p.Gly159Ser | |
| NR_073097.1:n.658G>A | ||
| NR_073098.1:n.230G>A | ||
| NM_014408.5:c.475G>A MANE Select | NP_055223.1:p.Gly159Ser | |
| NM_001270896.2:c.337G>A | NP_001257825.1:p.Gly113Ser | |
| NR_073097.2:n.630G>A | ||
| NR_073098.2:n.202G>A | ||
| NM_001270894.2:c.499G>A | NP_001257823.1:p.Gly167Ser | |
| NM_001270895.2:c.337G>A | NP_001257824.1:p.Gly113Ser | |
| NM_001270897.2:c.277G>A | NP_001257826.1:p.Gly93Ser |