Linked Data
ClinVar Variation Id:
6104
ClinVar RCV Id:
RCV000006478
dbSNP Id:
rs121908612
PubMed:
PMID:18252231
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.64615894A>G , CM000670.2:g.64615894A>G | GRCh38 |
| NC_000008.10:g.65528451A>G , CM000670.1:g.65528451A>G | GRCh37 |
| NC_000008.9:g.65691005A>G | NCBI36 |
| NG_008338.1:g.187898T>C | |
| NG_008338.2:g.187898T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310193.4:c.647T>C MANE Select | ENSP00000310721.3:p.Phe216Ser | |
| ENST00000310193.3:c.647T>C | ENSP00000310721.3:p.Phe216Ser | |
| NM_004820.3:c.647T>C | NP_004811.1:p.Phe216Ser | |
| NM_001324112.1:c.647T>C | NP_001311041.1:p.Phe216Ser | |
| NM_004820.4:c.647T>C | NP_004811.1:p.Phe216Ser | |
| XM_017014002.1:c.713T>C | XP_016869491.1:p.Phe238Ser | |
| NM_004820.5:c.647T>C MANE Select | NP_004811.1:p.Phe216Ser | |
| NM_001324112.2:c.647T>C | NP_001311041.1:p.Phe216Ser |