Linked Data
ClinVar Variation Id:
2386116
ClinVar RCV Id:
RCV004220074
dbSNP Id:
rs146809307
ExAC:
17:59667946 A / T
gnomAD v2:
17-59667946-A-T
gnomAD v3:
17-61590585-A-T
gnomAD v4:
17-61590585-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61590585A>T , CM000679.2:g.61590585A>T | GRCh38 |
| NC_000017.10:g.59667946A>T , CM000679.1:g.59667946A>T | GRCh37 |
| NC_000017.9:g.57022728A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000521764.3:c.596T>A MANE Select | ENSP00000427802.1:p.Leu199Gln | |
| ENST00000521764.2:c.596T>A | ENSP00000427802.1:p.Leu199Gln | |
| NM_199290.3:c.596T>A | NP_954984.1:p.Leu199Gln | |
| NM_199290.4:c.596T>A MANE Select | NP_954984.1:p.Leu199Gln |