Linked Data
ClinVar Variation Id:
2421738
ClinVar RCV Id:
RCV003116039
dbSNP Id:
rs751133343
ExAC:
16:89985823 T / C
gnomAD v2:
16-89985823-T-C
gnomAD v4:
16-89919415-T-C
MyVariant Identifiers:
chr16:g.89985823T>C (hg19)
chr16:g.89985823_89985826delinsCTGG (hg19)
chr16:g.89919415T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89919415T>C , CM000678.2:g.89919415T>C | GRCh38 |
| NC_000016.9:g.89985823T>C , CM000678.1:g.89985823T>C | GRCh37 |
| NC_000016.8:g.88513324T>C | NCBI36 |
| NG_012026.1:g.6537T>C | |
| NG_027810.1:g.2407T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000555147.2:c.157T>C MANE Select | ENSP00000451605.1:p.Leu53= | |
| ENST00000639847.1:c.157T>C | ENSP00000492011.1:p.Leu53= | |
| ENST00000555147.1:c.157T>C | ENSP00000451605.1:p.Leu53= | |
| ENST00000555427.1:c.157T>C | ENSP00000451760.1:p.Leu53= | |
| ENST00000556922.1:c.157T>C | ENSP00000451560.1:p.Leu53= | |
| NM_002386.3:c.157T>C | NP_002377.4:p.Leu53= | |
| NM_002386.4:c.157T>C MANE Select | NP_002377.4:p.Leu53= |