Linked Data
dbSNP Id:
rs2060995806
gnomAD v4:
17-61590674-T-C
MyVariant Identifiers:
chr17:g.59668035T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61590674T>C , CM000679.2:g.61590674T>C | GRCh38 |
| NC_000017.10:g.59668035T>C , CM000679.1:g.59668035T>C | GRCh37 |
| NC_000017.9:g.57022817T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000521764.3:c.507A>G MANE Select | ENSP00000427802.1:p.Glu169= | |
| ENST00000521764.2:c.507A>G | ENSP00000427802.1:p.Glu169= | |
| NM_199290.3:c.507A>G | NP_954984.1:p.Glu169= | |
| NM_199290.4:c.507A>G MANE Select | NP_954984.1:p.Glu169= |