Linked Data
ClinVar Variation Id:
1447127
ClinVar RCV Id:
RCV001988117
dbSNP Id:
rs2129734759
gnomAD v4:
9-6558564-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6558564C>T , CM000671.2:g.6558564C>T | GRCh38 |
| NC_000009.11:g.6558564C>T , CM000671.1:g.6558564C>T | GRCh37 |
| NC_000009.10:g.6548564C>T | NCBI36 |
| NG_016397.1:g.92129G>A , LRG_643:g.92129G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.2047G>A MANE Select | ENSP00000370737.4:p.Ala683Thr | |
| ENST00000460457.2:n.207G>A | ||
| ENST00000638233.1:n.482G>A | ||
| ENST00000638661.1:c.247G>A | ENSP00000491369.1:p.Ala83Thr | |
| ENST00000638694.1:n.234G>A | ||
| ENST00000639318.1:c.247G>A | ENSP00000491932.1:p.Ala83Thr | |
| ENST00000639364.1:n.1747G>A | ||
| ENST00000639443.1:n.1615G>A | ||
| ENST00000639954.1:n.1755G>A | ||
| ENST00000640208.1:c.247G>A | ENSP00000491895.1:p.Ala83Thr | |
| ENST00000640505.1:n.286G>A | ||
| ENST00000640592.1:n.1930G>A | ||
| ENST00000321612.6:c.2047G>A | ENSP00000370737.3:p.Ala683Thr | |
| ENST00000460457.1:n.186G>A | ||
| NM_000170.2:c.2047G>A , LRG_643t1:c.2047G>A | NP_000161.2:p.Ala683Thr | |
| NM_000170.3:c.2047G>A MANE Select | NP_000161.2:p.Ala683Thr |