Linked Data
ClinVar Variation Id:
470703
ClinVar RCV Id:
RCV000550231
dbSNP Id:
rs777024553
ExAC:
16:89985914 C / T
gnomAD v2:
16-89985914-C-T
gnomAD v3:
16-89919506-C-T
gnomAD v4:
16-89919506-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89919506C>T , CM000678.2:g.89919506C>T | GRCh38 |
| NC_000016.9:g.89985914C>T , CM000678.1:g.89985914C>T | GRCh37 |
| NC_000016.8:g.88513415C>T | NCBI36 |
| NG_012026.1:g.6628C>T | |
| NG_027810.1:g.2498C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000555147.2:c.248C>T MANE Select | ENSP00000451605.1:p.Ser83Leu | |
| ENST00000639847.1:c.248C>T | ENSP00000492011.1:p.Ser83Leu | |
| ENST00000555147.1:c.248C>T | ENSP00000451605.1:p.Ser83Leu | |
| ENST00000555427.1:c.248C>T | ENSP00000451760.1:p.Ser83Leu | |
| ENST00000556922.1:c.248C>T | ENSP00000451560.1:p.Ser83Leu | |
| NM_002386.3:c.248C>T | NP_002377.4:p.Ser83Leu | |
| NM_002386.4:c.248C>T MANE Select | NP_002377.4:p.Ser83Leu |