Linked Data
ClinVar Variation Id:
98823
dbSNP Id:
rs62646883
gnomAD v3:
1-68438237-C-G
gnomAD v4:
1-68438237-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68438237C>G , CM000663.2:g.68438237C>G | GRCh38 |
| NC_000001.10:g.68903920C>G , CM000663.1:g.68903920C>G | GRCh37 |
| NC_000001.9:g.68676508C>G | NCBI36 |
| NG_008472.1:g.16723G>C | |
| NG_008472.2:g.16723G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1078G>C MANE Select | ENSP00000262340.5:p.Ala360Pro | |
| ENST00000262340.5:c.1078G>C | ENSP00000262340.5:p.Ala360Pro | |
| NM_000329.2:c.1078G>C | NP_000320.1:p.Ala360Pro | |
| XM_017002027.1:c.802G>C | XP_016857516.1:p.Ala268Pro | |
| NM_000329.3:c.1078G>C MANE Select | NP_000320.1:p.Ala360Pro |