Linked Data
ClinVar Variation Id:
1622938
ClinVar RCV Id:
RCV002104331
dbSNP Id:
rs2129735219
gnomAD v4:
9-6558652-G-A
MyVariant Identifiers:
chr9:g.6558652G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6558652G>A , CM000671.2:g.6558652G>A | GRCh38 |
| NC_000009.11:g.6558652G>A , CM000671.1:g.6558652G>A | GRCh37 |
| NC_000009.10:g.6548652G>A | NCBI36 |
| NG_016397.1:g.92041C>T , LRG_643:g.92041C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.1959C>T MANE Select | ENSP00000370737.4:p.Thr653= | |
| ENST00000460457.2:n.119C>T | ||
| ENST00000638233.1:n.394C>T | ||
| ENST00000638661.1:c.159C>T | ENSP00000491369.1:p.Thr53= | |
| ENST00000638694.1:n.146C>T | ||
| ENST00000639318.1:c.159C>T | ENSP00000491932.1:p.Thr53= | |
| ENST00000639364.1:n.1659C>T | ||
| ENST00000639443.1:n.1527C>T | ||
| ENST00000639954.1:n.1667C>T | ||
| ENST00000640208.1:c.159C>T | ENSP00000491895.1:p.Thr53= | |
| ENST00000640505.1:n.198C>T | ||
| ENST00000640592.1:n.1842C>T | ||
| ENST00000321612.6:c.1959C>T | ENSP00000370737.3:p.Thr653= | |
| ENST00000460457.1:n.98C>T | ||
| NM_000170.2:c.1959C>T , LRG_643t1:c.1959C>T | NP_000161.2:p.Thr653= | |
| NM_000170.3:c.1959C>T MANE Select | NP_000161.2:p.Thr653= |