Linked Data
ClinVar Variation Id:
2536715
ClinVar RCV Id:
RCV003271164
dbSNP Id:
rs531823925
ExAC:
16:89220509 C / T
gnomAD v2:
16-89220509-C-T
gnomAD v3:
16-89154101-C-T
gnomAD v4:
16-89154101-C-T
MyVariant Identifiers:
chr16:g.89220509C>T (hg19)
chr16:g.89220509_89220515delinsTCCCGTA (hg19)
chr16:g.89154101C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89154101C>T , CM000678.2:g.89154101C>T | GRCh38 |
| NC_000016.9:g.89220509C>T , CM000678.1:g.89220509C>T | GRCh37 |
| NC_000016.8:g.87748010C>T | NCBI36 |
| NG_031961.1:g.65293C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317447.9:c.1625C>T | ENSP00000320646.4:p.Ala542Val | |
| ENST00000614302.5:c.1625C>T MANE Select | ENSP00000479130.1:p.Ala542Val | |
| ENST00000649953.1:c.1835C>T | ENSP00000497456.1:p.Ala612Val | |
| ENST00000317447.8:c.1625C>T | ENSP00000320646.4:p.Ala542Val | |
| ENST00000378345.8:c.830C>T | ENSP00000367596.4:p.Ala277Val | |
| ENST00000393145.5:n.6535C>T | ||
| ENST00000406948.7:c.1625C>T | ENSP00000384627.3:p.Ala542Val | |
| ENST00000537116.5:n.751C>T | ||
| ENST00000537155.1:n.365C>T | ||
| ENST00000542688.5:c.*369C>T | ENSP00000446281.1:n.*369C>T | |
| ENST00000614302.4:c.1625C>T | ENSP00000479130.1:p.Ala542Val | |
| NM_001127214.3:c.1625C>T | NP_001120686.1:p.Ala542Val | |
| NM_001243279.2:c.1625C>T | NP_001230208.1:p.Ala542Val | |
| NM_001284316.1:c.830C>T | NP_001271245.1:p.Ala277Val | |
| NM_174917.4:c.1625C>T | NP_777577.2:p.Ala542Val | |
| NR_045667.2:n.751C>T | ||
| NR_104293.1:n.2059C>T | ||
| XR_933239.1:n.2066C>T | ||
| XR_933240.1:n.2063C>T | ||
| XR_933241.1:n.1820C>T | ||
| NR_147928.1:n.2103C>T | ||
| NR_147929.1:n.1857C>T | ||
| XM_017023020.2:c.-3480C>T | XP_016878509.1:n.-3480C>T | |
| XM_024450187.1:c.830C>T | XP_024305955.1:p.Ala277Val | |
| XR_001751864.2:n.1872C>T | ||
| XR_933240.3:n.2062C>T | ||
| NM_001127214.4:c.1625C>T | NP_001120686.1:p.Ala542Val | |
| NM_001243279.3:c.1625C>T MANE Select | NP_001230208.1:p.Ala542Val | |
| NM_001284316.2:c.830C>T | NP_001271245.1:p.Ala277Val | |
| NM_174917.5:c.1625C>T | NP_777577.2:p.Ala542Val | |
| NR_104293.2:n.2016C>T | ||
| NR_147928.2:n.2060C>T | ||
| NR_147929.2:n.1814C>T |