Linked Data
ClinVar Variation Id:
403
ClinVar RCV Id:
RCV000000430
dbSNP Id:
rs118203915
PubMed:
PMID:1357662
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.71572224G>C , CM000678.2:g.71572224G>C | GRCh38 |
| NC_000016.9:g.71606127G>C , CM000678.1:g.71606127G>C | GRCh37 |
| NC_000016.8:g.70163628G>C | NCBI36 |
| NG_008235.1:g.9872C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355962.5:c.668C>G (TAT) MANE Select | ENSP00000348234.4:p.Ser223Ter | |
| ENST00000355962.4:c.668C>G (TAT) | ENSP00000348234.4:p.Ser223Ter | |
| NM_000353.2:c.668C>G (TAT) | NP_000344.1:p.Ser223Ter | |
| NR_103851.1:n.489G>C (TAT-AS1) | ||
| NR_103852.1:n.463G>C (TAT-AS1) | ||
| NM_000353.3:c.668C>G (TAT) MANE Select | NP_000344.1:p.Ser223Ter |