Linked Data
ClinVar Variation Id:
1559421
ClinVar RCV Id:
RCV002208892
dbSNP Id:
rs2129315815
gnomAD v4:
7-107689143-A-C
MyVariant Identifiers:
chr7:g.107329588A>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107689143A>C , CM000669.2:g.107689143A>C | GRCh38 |
| NC_000007.13:g.107329588A>C , CM000669.1:g.107329588A>C | GRCh37 |
| NC_000007.12:g.107116824A>C | NCBI36 |
| NG_008489.1:g.33509A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644269.2:c.1092A>C MANE Select | ENSP00000494017.1:p.Ala364= | |
| ENST00000265715.7:c.1092A>C | ENSP00000265715.3:p.Ala364= | |
| NM_000441.1:c.1092A>C | NP_000432.1:p.Ala364= | |
| XM_005250425.1:c.1092A>C | XP_005250482.1:p.Ala364= | |
| XM_006716025.2:c.1092A>C | XP_006716088.1:p.Ala364= | |
| XM_005250425.2:c.1092A>C | XP_005250482.1:p.Ala364= | |
| XM_006716025.3:c.1092A>C | XP_006716088.1:p.Ala364= | |
| XM_017012318.1:c.1092A>C | XP_016867807.1:p.Ala364= | |
| NM_000441.2:c.1092A>C MANE Select | NP_000432.1:p.Ala364= |