Linked Data
ClinVar Variation Id:
320405
ClinVar RCV Id:
RCV000348549
dbSNP Id:
rs371975183
ExAC:
16:71603792 G / A
gnomAD v2:
16-71603792-G-A
gnomAD v3:
16-71569889-G-A
gnomAD v4:
16-71569889-G-A
COSMIC:
COSM3764568
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.71569889G>A , CM000678.2:g.71569889G>A | GRCh38 |
| NC_000016.9:g.71603792G>A , CM000678.1:g.71603792G>A | GRCh37 |
| NC_000016.8:g.70161293G>A | NCBI36 |
| NG_008235.1:g.12207C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355962.5:c.1090C>T (TAT) MANE Select | ENSP00000348234.4:p.Arg364Trp | |
| ENST00000355962.4:c.1090C>T (TAT) | ENSP00000348234.4:p.Arg364Trp | |
| ENST00000564007.2:n.46C>T (TAT) | ||
| NM_000353.2:c.1090C>T (TAT) | NP_000344.1:p.Arg364Trp | |
| NR_103851.1:n.285-2131G>A (TAT-AS1) | ||
| NR_103852.1:n.259-2131G>A (TAT-AS1) | ||
| NM_000353.3:c.1090C>T (TAT) MANE Select | NP_000344.1:p.Arg364Trp |