Linked Data
ClinVar Variation Id:
1445398
ClinVar RCV Id:
RCV001958250
dbSNP Id:
rs775798496
gnomAD v2:
16-89986289-T-C
gnomAD v3:
16-89919881-T-C
gnomAD v4:
16-89919881-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89919881T>C , CM000678.2:g.89919881T>C | GRCh38 |
| NC_000016.9:g.89986289T>C , CM000678.1:g.89986289T>C | GRCh37 |
| NC_000016.8:g.88513790T>C | NCBI36 |
| NG_012026.1:g.7003T>C | |
| NG_027810.1:g.2873T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555147.2:c.623T>C MANE Select | ENSP00000451605.1:p.Val208Ala | |
| ENST00000639847.1:c.623T>C | ENSP00000492011.1:p.Val208Ala | |
| ENST00000555147.1:c.623T>C | ENSP00000451605.1:p.Val208Ala | |
| ENST00000555427.1:c.623T>C | ENSP00000451760.1:p.Val208Ala | |
| ENST00000556922.1:c.623T>C | ENSP00000451560.1:p.Val208Ala | |
| NM_002386.3:c.623T>C | NP_002377.4:p.Val208Ala | |
| NM_002386.4:c.623T>C MANE Select | NP_002377.4:p.Val208Ala |