Linked Data
ClinVar Variation Id:
462883
dbSNP Id:
rs146045718
ExAC:
9:6533116 C / T
gnomAD v2:
9-6533116-C-T
gnomAD v3:
9-6533116-C-T
gnomAD v4:
9-6533116-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6533116C>T , CM000671.2:g.6533116C>T | GRCh38 |
| NC_000009.11:g.6533116C>T , CM000671.1:g.6533116C>T | GRCh37 |
| NC_000009.10:g.6523116C>T | NCBI36 |
| NG_016397.1:g.117577G>A , LRG_643:g.117577G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.2964G>A MANE Select | ENSP00000370737.4:p.Arg988= | |
| ENST00000638233.1:n.1399G>A | ||
| ENST00000638274.1:c.229G>A | ||
| ENST00000638661.1:c.1164G>A | ENSP00000491369.1:p.Arg388= | |
| ENST00000638694.1:n.1151G>A | ||
| ENST00000639318.1:c.1068G>A | ENSP00000491932.1:p.Arg356= | |
| ENST00000639364.1:n.2664G>A | ||
| ENST00000639443.1:n.2532G>A | ||
| ENST00000639461.1:n.2065G>A | ||
| ENST00000639639.1:c.666G>A | ENSP00000491312.1:p.Arg222= | |
| ENST00000639954.1:n.2672G>A | ||
| ENST00000640505.1:n.1203G>A | ||
| ENST00000321612.6:c.2964G>A | ENSP00000370737.3:p.Arg988= | |
| ENST00000477960.1:n.545G>A | ||
| NM_000170.2:c.2964G>A , LRG_643t1:c.2964G>A | NP_000161.2:p.Arg988= | |
| NM_000170.3:c.2964G>A MANE Select | NP_000161.2:p.Arg988= |