Linked Data
ClinVar Variation Id:
504511
dbSNP Id:
rs1293971731
gnomAD v2:
7-107330650-G-C
gnomAD v4:
7-107690205-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107690205G>C , CM000669.2:g.107690205G>C | GRCh38 |
| NC_000007.13:g.107330650G>C , CM000669.1:g.107330650G>C | GRCh37 |
| NC_000007.12:g.107117886G>C | NCBI36 |
| NG_008489.1:g.34571G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644269.2:c.1231G>C MANE Select | ENSP00000494017.1:p.Ala411Pro | |
| ENST00000265715.7:c.1231G>C | ENSP00000265715.3:p.Ala411Pro | |
| NM_000441.1:c.1231G>C | NP_000432.1:p.Ala411Pro | |
| XM_005250425.1:c.1231G>C | XP_005250482.1:p.Ala411Pro | |
| XM_006716025.2:c.1231G>C | XP_006716088.1:p.Ala411Pro | |
| XM_005250425.2:c.1231G>C | XP_005250482.1:p.Ala411Pro | |
| XM_006716025.3:c.1231G>C | XP_006716088.1:p.Ala411Pro | |
| XM_017012318.1:c.1231G>C | XP_016867807.1:p.Ala411Pro | |
| NM_000441.2:c.1231G>C MANE Select | NP_000432.1:p.Ala411Pro |