Linked Data
ClinVar Variation Id:
3172679
ClinVar RCV Id:
RCV004463602
dbSNP Id:
rs777652134
ExAC:
17:59668157 G / T
gnomAD v2:
17-59668157-G-T
gnomAD v3:
17-61590796-G-T
gnomAD v4:
17-61590796-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61590796G>T , CM000679.2:g.61590796G>T | GRCh38 |
| NC_000017.10:g.59668157G>T , CM000679.1:g.59668157G>T | GRCh37 |
| NC_000017.9:g.57022939G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000521764.3:c.385C>A MANE Select | ENSP00000427802.1:p.Gln129Lys | |
| ENST00000521764.2:c.385C>A | ENSP00000427802.1:p.Gln129Lys | |
| NM_199290.3:c.385C>A | NP_954984.1:p.Gln129Lys | |
| NM_199290.4:c.385C>A MANE Select | NP_954984.1:p.Gln129Lys |