Linked Data
ClinVar Variation Id:
1413675
ClinVar RCV Id:
RCV001928227
dbSNP Id:
rs1047036686
gnomAD v3:
2-189565485-C-G
gnomAD v4:
2-189565485-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.189565485C>G , CM000664.2:g.189565485C>G | GRCh38 |
| NC_000002.11:g.190430211C>G , CM000664.1:g.190430211C>G | GRCh37 |
| NC_000002.10:g.190138456C>G | NCBI36 |
| NG_009027.1:g.20327G>C , LRG_837:g.20327G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261024.7:c.629G>C MANE Select | ENSP00000261024.3:p.Gly210Ala | |
| ENST00000261024.6:c.629G>C | ENSP00000261024.2:p.Gly210Ala | |
| NM_014585.5:c.629G>C , LRG_837t1:c.629G>C | NP_055400.1:p.Gly210Ala | |
| XM_005246505.1:c.509G>C | XP_005246562.1:p.Gly170Ala | |
| XM_005246505.2:c.509G>C | XP_005246562.1:p.Gly170Ala | |
| XM_017003938.2:c.509G>C | XP_016859427.1:p.Gly170Ala | |
| NM_014585.6:c.629G>C MANE Select | NP_055400.1:p.Gly210Ala |