Linked Data
ClinVar Variation Id:
1792183
dbSNP Id:
rs376981679
ExAC:
1:236882201 G / C
gnomAD v2:
1-236882201-G-C
gnomAD v4:
1-236718901-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.236718901G>C , CM000663.2:g.236718901G>C | GRCh38 |
| NC_000001.10:g.236882201G>C , CM000663.1:g.236882201G>C | GRCh37 |
| NC_000001.9:g.234948824G>C | NCBI36 |
| NG_009081.1:g.37432G>C | |
| NG_009081.2:g.59761G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000542672.7:c.249G>C | ENSP00000443495.1:p.Arg83Ser | |
| ENST00000492634.7:n.344G>C | ||
| ENST00000682015.1:c.249G>C | ENSP00000506961.1:p.Arg83Ser | |
| ENST00000682692.1:n.249G>C | ||
| ENST00000682966.1:n.248G>C | ||
| ENST00000683075.1:n.188G>C | ||
| ENST00000683111.1:c.192G>C | ENSP00000507913.1:p.Arg64Ser | |
| ENST00000684050.1:n.284G>C | ||
| ENST00000684286.1:n.317G>C | ||
| ENST00000684502.1:n.284G>C | ||
| ENST00000366578.6:c.249G>C MANE Select | ENSP00000355537.4:p.Arg83Ser | |
| ENST00000492634.6:n.344G>C | ||
| ENST00000542672.6:c.249G>C | ENSP00000443495.1:p.Arg83Ser | |
| ENST00000651091.1:c.192G>C | ENSP00000498677.1:p.Arg64Ser | |
| ENST00000651187.1:c.33G>C | ENSP00000498348.1:p.Arg11Ser | |
| ENST00000651275.1:c.234G>C | ENSP00000498926.1:p.Arg78Ser | |
| ENST00000651786.1:c.249G>C | ENSP00000498364.1:p.Arg83Ser | |
| ENST00000652096.1:c.249G>C | ENSP00000498896.1:p.Arg83Ser | |
| ENST00000366578.5:c.249G>C | ENSP00000355537.4:p.Arg83Ser | |
| ENST00000492634.5:n.396G>C | ||
| ENST00000542672.5:c.249G>C | ENSP00000443495.1:p.Arg83Ser | |
| ENST00000546208.5:c.-573G>C | ENSP00000438384.2:n.-573G>C | |
| NM_001103.3:c.249G>C | NP_001094.1:p.Arg83Ser | |
| NM_001278343.1:c.249G>C | NP_001265272.1:p.Arg83Ser | |
| NM_001278344.1:c.-573G>C | NP_001265273.1:n.-573G>C | |
| NM_001278343.2:c.249G>C | NP_001265272.1:p.Arg83Ser | |
| NM_001103.4:c.249G>C MANE Select | NP_001094.1:p.Arg83Ser | |
| NM_001278344.2:c.-573G>C | NP_001265273.1:n.-573G>C |