Linked Data
ClinVar Variation Id:
1339808
ClinVar RCV Id:
RCV001825191
dbSNP Id:
rs2144259445
gnomAD v4:
17-38329397-T-G
MyVariant Identifiers:
chr17:g.38329397T>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.38329397T>G , CM000679.2:g.38329397T>G | GRCh38 |
| NC_000017.9:g.33738806T>G | NCBI36 |
| NG_032655.2:g.19414A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000616987.5:c.4172A>C MANE Select | ENSP00000483469.2:p.Asp1391Ala | |
| ENST00000616987.4:c.4172A>C | ENSP00000483469.1:p.Asp1391Ala | |
| ENST00000621958.1:c.4175A>C | ENSP00000480024.1:p.Asp1392Ala | |
| NM_001004334.3:c.4172A>C | NP_001004334.3:p.Asp1391Ala | |
| NM_001004334.4:c.4172A>C MANE Select | NP_001004334.3:p.Asp1391Ala |