Linked Data
ClinVar Variation Id:
896448
dbSNP Id:
rs202102918
gnomAD v2:
2-207632100-A-C
gnomAD v3:
2-206767376-A-C
gnomAD v4:
2-206767376-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.206767376A>C , CM000664.2:g.206767376A>C | GRCh38 |
| NC_000002.11:g.207632100A>C , CM000664.1:g.207632100A>C | GRCh37 |
| NC_000002.10:g.207340345A>C | NCBI36 |
| NG_008984.1:g.6989A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402774.8:c.683A>C MANE Select | ENSP00000385990.3:p.Gln228Pro | |
| ENST00000236980.10:c.683A>C | ENSP00000236980.6:p.Gln228Pro | |
| ENST00000402774.7:c.683A>C | ENSP00000385990.3:p.Gln228Pro | |
| ENST00000403094.3:c.683A>C | ENSP00000384929.3:p.Gln228Pro | |
| ENST00000487777.5:n.741A>C | ||
| NM_001136193.1:c.683A>C | NP_001129665.1:p.Gln228Pro | |
| NM_001136194.1:c.683A>C | NP_001129666.1:p.Gln228Pro | |
| NM_014929.3:c.683A>C | NP_055744.2:p.Gln228Pro | |
| NM_001136193.2:c.683A>C MANE Select | NP_001129665.1:p.Gln228Pro | |
| NM_001136194.2:c.683A>C | NP_001129666.1:p.Gln228Pro | |
| NM_014929.4:c.683A>C | NP_055744.2:p.Gln228Pro |