Linked Data
ClinVar Variation Id:
404
ClinVar RCV Id:
RCV000000431
dbSNP Id:
rs118203916
ExAC:
16:71602163 G / A
gnomAD v2:
16-71602163-G-A
gnomAD v3:
16-71568260-G-A
gnomAD v4:
16-71568260-G-A
COSMIC:
COSM5851413
PubMed:
PMID:1357662
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.71568260G>A , CM000678.2:g.71568260G>A | GRCh38 |
| NC_000016.9:g.71602163G>A , CM000678.1:g.71602163G>A | GRCh37 |
| NC_000016.8:g.70159664G>A | NCBI36 |
| NG_008235.1:g.13836C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355962.5:c.1249C>T (TAT) MANE Select | ENSP00000348234.4:p.Arg417Ter | |
| ENST00000355962.4:c.1249C>T (TAT) | ENSP00000348234.4:p.Arg417Ter | |
| ENST00000564007.2:n.631C>T (TAT) | ||
| NM_000353.2:c.1249C>T (TAT) | NP_000344.1:p.Arg417Ter | |
| NR_103851.1:n.284+2059G>A (TAT-AS1) | ||
| NR_103852.1:n.258+2059G>A (TAT-AS1) | ||
| NM_000353.3:c.1249C>T (TAT) MANE Select | NP_000344.1:p.Arg417Ter |