Linked Data
ClinVar Variation Id:
1415352
dbSNP Id:
rs994570602
gnomAD v2:
1-94497395-T-G
gnomAD v4:
1-94031839-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94031839T>G , CM000663.2:g.94031839T>G | GRCh38 |
| NC_000001.10:g.94497395T>G , CM000663.1:g.94497395T>G | GRCh37 |
| NC_000001.9:g.94269983T>G | NCBI36 |
| NG_009073.1:g.94311A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.4067A>C MANE Select | ENSP00000359245.3:p.Gln1356Pro | |
| ENST00000370225.3:c.4067A>C | ENSP00000359245.3:p.Gln1356Pro | |
| ENST00000536513.5:c.443A>C | ENSP00000439707.2:p.Gln148Pro | |
| NM_000350.2:c.4067A>C | NP_000341.2:p.Gln1356Pro | |
| NM_000350.3:c.4067A>C MANE Select | NP_000341.2:p.Gln1356Pro |