Linked Data
ClinVar Variation Id:
268080
ClinVar RCV Id:
RCV000283392
RCV000322037
RCV000378796
RCV000503276
RCV001820800
RCV002305476
RCV002518795
RCV000765804
dbSNP Id:
rs778187343
ExAC:
5:1294114 T / G
gnomAD v2:
5-1294114-T-G
gnomAD v3:
5-1293999-T-G
gnomAD v4:
5-1293999-T-G
PubMed:
PMID:28677271
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1293999T>G , CM000667.2:g.1293999T>G | GRCh38 |
| NC_000005.9:g.1294114T>G , CM000667.1:g.1294114T>G | GRCh37 |
| NC_000005.8:g.1347114T>G | NCBI36 |
| NG_009265.1:g.6049A>C , LRG_343:g.6049A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310581.10:c.887A>C MANE Select | ENSP00000309572.5:p.His296Pro | |
| ENST00000656021.1:c.887A>C | ENSP00000499759.1:p.His296Pro | |
| ENST00000310581.9:c.887A>C | ENSP00000309572.5:p.His296Pro | |
| ENST00000334602.10:c.887A>C | ENSP00000334346.6:p.His296Pro | |
| ENST00000460137.6:c.887A>C | ENSP00000425003.1:p.His296Pro | |
| ENST00000508104.2:c.887A>C | ENSP00000426042.2:p.His296Pro | |
| NM_001193376.1:c.887A>C | NP_001180305.1:p.His296Pro | |
| NM_198253.2:c.887A>C , LRG_343t1:c.887A>C | NP_937983.2:p.His296Pro | |
| NR_149162.1:n.945A>C | ||
| NR_149163.1:n.945A>C | ||
| NM_001193376.2:c.887A>C | NP_001180305.1:p.His296Pro | |
| NM_198253.3:c.887A>C MANE Select | NP_937983.2:p.His296Pro | |
| NR_149162.2:n.966A>C | ||
| NR_149163.2:n.966A>C | ||
| NM_001193376.3:c.887A>C | NP_001180305.1:p.His296Pro | |
| NR_149162.3:n.966A>C | ||
| NR_149163.3:n.966A>C |