Linked Data
ClinVar Variation Id:
36483
ClinVar RCV Id:
RCV000030155
dbSNP Id:
rs193922685
gnomAD v2:
18-58039045-A-G
gnomAD v4:
18-60371812-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.60371812A>G , CM000680.2:g.60371812A>G | GRCh38 |
| NC_000018.9:g.58039045A>G , CM000680.1:g.58039045A>G | GRCh37 |
| NC_000018.8:g.56190025A>G | NCBI36 |
| NG_016441.1:g.5957T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299766.5:c.538T>C MANE Select | ENSP00000299766.3:p.Ser180Pro | |
| ENST00000299766.4:c.538T>C | ENSP00000299766.3:p.Ser180Pro | |
| NM_005912.2:c.538T>C | NP_005903.2:p.Ser180Pro | |
| NM_005912.3:c.538T>C MANE Select | NP_005903.2:p.Ser180Pro |