Linked Data
ClinVar Variation Id:
2097930
ClinVar RCV Id:
RCV003030695
dbSNP Id:
rs2087748809
gnomAD v3:
17-16972034-A-G
gnomAD v4:
17-16972034-A-G
MyVariant Identifiers:
chr17:g.16875348A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.16972034A>G , CM000679.2:g.16972034A>G | GRCh38 |
| NC_000017.10:g.16875348A>G , CM000679.1:g.16875348A>G | GRCh37 |
| NC_000017.9:g.16816073A>G | NCBI36 |
| NG_007281.1:g.5055T>C , LRG_120:g.5055T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261652.7:c.42T>C MANE Select | ENSP00000261652.2:p.Arg14= | |
| ENST00000261652.6:c.42T>C | ENSP00000261652.2:p.Arg14= | |
| ENST00000579315.5:c.42T>C | ENSP00000464069.1:p.Arg14= | |
| ENST00000581616.2:n.45T>C | ||
| ENST00000582931.5:n.84T>C | ||
| ENST00000583789.1:c.42T>C | ENSP00000462952.1:p.Arg14= | |
| ENST00000584950.5:c.42T>C | ENSP00000463582.1:p.Arg14= | |
| NM_012452.2:c.42T>C , LRG_120t1:c.42T>C | NP_036584.1:p.Arg14= | |
| NM_012452.3:c.42T>C MANE Select | NP_036584.1:p.Arg14= |