Linked Data
ClinVar Variation Id:
438135
ClinVar RCV Id:
RCV000504672
dbSNP Id:
rs747653875
ExAC:
1:10042655 G / C
gnomAD v2:
1-10042655-G-C
gnomAD v4:
1-9982597-G-C
PubMed:
PMID:28041643
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.9982597G>C , CM000663.2:g.9982597G>C | GRCh38 |
| NC_000001.10:g.10042655G>C , CM000663.1:g.10042655G>C | GRCh37 |
| NC_000001.9:g.9965242G>C | NCBI36 |
| NG_032954.1:g.44170G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377205.6:c.736G>C MANE Select | ENSP00000366410.1:p.Glu246Gln | |
| ENST00000377205.5:c.736G>C | ENSP00000366410.1:p.Glu246Gln | |
| ENST00000462686.1:c.736G>C | ENSP00000435134.1:p.Glu246Gln | |
| ENST00000496751.1:c.119+1427G>C | ||
| NM_001297778.1:c.736G>C | NP_001284707.1:p.Glu246Gln | |
| NM_022787.3:c.736G>C | NP_073624.2:p.Glu246Gln | |
| XM_011541971.1:c.439+1427G>C | XP_011540273.1:n.439+1427G>C | |
| XM_011541971.2:c.439+1427G>C | XP_011540273.1:n.439+1427G>C | |
| XM_017002107.2:c.736G>C | XP_016857596.1:p.Glu246Gln | |
| XM_017002108.2:c.439+1427G>C | XP_016857597.1:n.439+1427G>C | |
| NM_022787.4:c.736G>C MANE Select | NP_073624.2:p.Glu246Gln |