Linked Data
ClinVar Variation Id:
385325
dbSNP Id:
rs149252987
gnomAD v3:
17-38330115-A-G
gnomAD v4:
17-38330115-A-G
MyVariant Identifiers:
chr17:g.38330115A>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.38330115A>G , CM000679.2:g.38330115A>G | GRCh38 |
| NC_000017.9:g.33739524A>G | NCBI36 |
| NG_032655.2:g.18696T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000616987.5:c.3454T>C MANE Select | ENSP00000483469.2:p.Ser1152Pro | |
| ENST00000616987.4:c.3454T>C | ENSP00000483469.1:p.Ser1152Pro | |
| ENST00000621958.1:c.3457T>C | ENSP00000480024.1:p.Ser1153Pro | |
| NM_001004334.3:c.3454T>C | NP_001004334.3:p.Ser1152Pro | |
| NM_001004334.4:c.3454T>C MANE Select | NP_001004334.3:p.Ser1152Pro |