Linked Data
ClinVar Variation Id:
1781145
ClinVar RCV Id:
RCV002412832
dbSNP Id:
rs1243932152
gnomAD v3:
21-34370661-T-G
gnomAD v4:
21-34370661-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34370661T>G , CM000683.2:g.34370661T>G | GRCh38 |
| NC_000021.8:g.35742960T>G , CM000683.1:g.35742960T>G | GRCh37 |
| NC_000021.7:g.34664830T>G | NCBI36 |
| NG_008804.1:g.11638T>G , LRG_291:g.11638T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000290310.4:c.183T>G MANE Select | ENSP00000290310.2:p.Ser61= | |
| ENST00000290310.3:c.183T>G | ENSP00000290310.2:p.Ser61= | |
| NM_172201.1:c.183T>G , LRG_291t1:c.183T>G | NP_751951.1:p.Ser61= | |
| XR_937683.1:n.660A>C | ||
| XR_937684.1:n.660A>C | ||
| XR_001755012.2:n.781A>C | ||
| XR_001755013.2:n.660A>C | ||
| XR_937683.2:n.660A>C | ||
| NM_172201.2:c.183T>G MANE Select | NP_751951.1:p.Ser61= |