Linked Data
ClinVar Variation Id:
10543
ClinVar RCV Id:
RCV000011289
dbSNP Id:
rs267606995
PubMed:
PMID:20159109
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.155264268G>T , CM000685.2:g.155264268G>T | GRCh38 |
| NC_000023.10:g.154493553G>T , CM000685.1:g.154493553G>T | GRCh37 |
| NC_000023.9:g.154146747G>T | NCBI36 |
| NG_012626.2:g.5294C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369454.4:c.21C>A MANE Select | ENSP00000358466.3:p.Tyr7Ter | |
| ENST00000369454.3:c.21C>A | ENSP00000358466.3:p.Tyr7Ter | |
| NM_171998.3:c.21C>A | NP_741995.1:p.Tyr7Ter | |
| NM_171998.4:c.21C>A MANE Select | NP_741995.1:p.Tyr7Ter |