Linked Data
ClinVar Variation Id:
14310
ClinVar RCV Id:
RCV000015381
RCV000015382
RCV000015383
RCV000244718
RCV000255906
RCV000356300
RCV001281076
dbSNP Id:
rs1805008
ExAC:
16:89986144 C / T
gnomAD v2:
16-89986144-C-T
gnomAD v3:
16-89919736-C-T
gnomAD v4:
16-89919736-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89919736C>T , CM000678.2:g.89919736C>T | GRCh38 |
| NC_000016.9:g.89986144C>T , CM000678.1:g.89986144C>T | GRCh37 |
| NC_000016.8:g.88513645C>T | NCBI36 |
| NG_012026.1:g.6858C>T | |
| NG_027810.1:g.2728C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000555147.2:c.478C>T MANE Select | ENSP00000451605.1:p.Arg160Trp | |
| ENST00000639847.1:c.478C>T | ENSP00000492011.1:p.Arg160Trp | |
| ENST00000555147.1:c.478C>T | ENSP00000451605.1:p.Arg160Trp | |
| ENST00000555427.1:c.478C>T | ENSP00000451760.1:p.Arg160Trp | |
| ENST00000556922.1:c.478C>T | ENSP00000451560.1:p.Arg160Trp | |
| NM_002386.3:c.478C>T | NP_002377.4:p.Arg160Trp | |
| NM_002386.4:c.478C>T MANE Select | NP_002377.4:p.Arg160Trp |