Linked Data
ClinVar Variation Id:
2983808
ClinVar RCV Id:
RCV003840903
dbSNP Id:
rs912181023
gnomAD v2:
1-149897837-A-C
gnomAD v3:
1-149925945-A-C
gnomAD v4:
1-149925945-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.149925945A>C , CM000663.2:g.149925945A>C | GRCh38 |
| NC_000001.10:g.149897837A>C , CM000663.1:g.149897837A>C | GRCh37 |
| NC_000001.9:g.148164461A>C | NCBI36 |
| NG_032777.1:g.7308T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271628.9:c.804T>G MANE Select | ENSP00000271628.8:p.Pro268= | |
| ENST00000271628.8:c.804T>G | ENSP00000271628.8:p.Pro268= | |
| NM_005850.4:c.804T>G | NP_005841.1:p.Pro268= | |
| NM_005850.5:c.804T>G MANE Select | NP_005841.1:p.Pro268= |