Linked Data
ClinVar Variation Id:
13072
ClinVar RCV Id:
RCV000013947
dbSNP Id:
rs137853292
PubMed:
PMID:2594029
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48452997C>T , CM000675.2:g.48452997C>T | GRCh38 |
| NC_000013.10:g.49027133C>T , CM000675.1:g.49027133C>T | GRCh37 |
| NC_000013.9:g.47925134C>T | NCBI36 |
| NG_009009.1:g.154251C>T , LRG_517:g.154251C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267163.6:c.1700C>T MANE Select | ENSP00000267163.4:p.Ser567Leu | |
| ENST00000643064.1:c.194+71554C>T | ||
| ENST00000650461.1:c.1700C>T | ENSP00000497193.1:p.Ser567Leu | |
| ENST00000267163.4:c.1700C>T | ENSP00000267163.4:p.Ser567Leu | |
| ENST00000480491.1:n.399C>T | ||
| NM_000321.2:c.1700C>T , LRG_517t1:c.1700C>T | NP_000312.2:p.Ser567Leu | |
| XM_011535171.1:c.1439C>T | XP_011533473.1:p.Ser480Leu | |
| XM_011535171.2:c.1439C>T | XP_011533473.1:p.Ser480Leu | |
| NM_000321.3:c.1700C>T MANE Select | NP_000312.2:p.Ser567Leu |