Linked Data
ClinVar Variation Id:
229
ClinVar RCV Id:
RCV000000253
dbSNP Id:
rs121964909
PubMed:
PMID:8776587
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177440340A>G , CM000666.2:g.177440340A>G | GRCh38 |
| NC_000004.11:g.178361494A>G , CM000666.1:g.178361494A>G | GRCh37 |
| NC_000004.10:g.178598488A>G | NCBI36 |
| NG_011845.2:g.7164T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264595.7:c.214T>C MANE Select | ENSP00000264595.2:p.Ser72Pro | |
| ENST00000264595.6:c.214T>C | ENSP00000264595.2:p.Ser72Pro | |
| ENST00000506853.5:n.248T>C | ||
| ENST00000510955.5:n.248T>C | ||
| ENST00000511231.1:n.248T>C | ||
| NM_000027.3:c.214T>C | NP_000018.2:p.Ser72Pro | |
| NM_001171988.1:c.214T>C | NP_001165459.1:p.Ser72Pro | |
| NR_033655.1:n.342T>C | ||
| XM_006714123.2:c.214T>C | XP_006714186.1:p.Ser72Pro | |
| XR_001741155.2:n.308T>C | ||
| NM_000027.4:c.214T>C MANE Select | NP_000018.2:p.Ser72Pro | |
| NM_001171988.2:c.214T>C | NP_001165459.1:p.Ser72Pro | |
| NR_033655.2:n.276T>C |