Linked Data
ClinVar Variation Id:
3172684
ClinVar RCV Id:
RCV004463607
dbSNP Id:
rs767868011
ExAC:
17:59668083 A / C
gnomAD v2:
17-59668083-A-C
gnomAD v4:
17-61590722-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61590722A>C , CM000679.2:g.61590722A>C | GRCh38 |
| NC_000017.10:g.59668083A>C , CM000679.1:g.59668083A>C | GRCh37 |
| NC_000017.9:g.57022865A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000521764.3:c.459T>G MANE Select | ENSP00000427802.1:p.Ile153Met | |
| ENST00000521764.2:c.459T>G | ENSP00000427802.1:p.Ile153Met | |
| NM_199290.3:c.459T>G | NP_954984.1:p.Ile153Met | |
| NM_199290.4:c.459T>G MANE Select | NP_954984.1:p.Ile153Met |