Linked Data
ClinVar Variation Id:
255817
dbSNP Id:
rs6256
ExAC:
11:13514053 G / T
gnomAD v2:
11-13514053-G-T
gnomAD v3:
11-13492506-G-T
gnomAD v4:
11-13492506-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.13492506G>T , CM000673.2:g.13492506G>T | GRCh38 |
| NC_000011.9:g.13514053G>T , CM000673.1:g.13514053G>T | GRCh37 |
| NC_000011.8:g.13470629G>T | NCBI36 |
| NG_008962.1:g.8515C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282091.6:c.247C>A MANE Select | ENSP00000282091.1:p.Arg83= | |
| ENST00000282091.5:c.247C>A | ENSP00000282091.1:p.Arg83= | |
| ENST00000529816.1:c.247C>A | ENSP00000433208.1:p.Arg83= | |
| NM_000315.2:c.247C>A | NP_000306.1:p.Arg83= | |
| NM_000315.3:c.247C>A | NP_000306.1:p.Arg83= | |
| NM_001316352.1:c.343C>A | NP_001303281.1:p.Arg115= | |
| NM_000315.4:c.247C>A MANE Select | NP_000306.1:p.Arg83= | |
| NM_001316352.2:c.343C>A | NP_001303281.1:p.Arg115= |