Linked Data
ClinVar Variation Id:
2460720
ClinVar RCV Id:
RCV004255211
dbSNP Id:
rs374837260
ExAC:
11:48152019 C / G
gnomAD v2:
11-48152019-C-G
gnomAD v3:
11-48130467-C-G
gnomAD v4:
11-48130467-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.48130467C>G , CM000673.2:g.48130467C>G | GRCh38 |
| NC_000011.9:g.48152019C>G , CM000673.1:g.48152019C>G | GRCh37 |
| NC_000011.8:g.48108595C>G | NCBI36 |
| NG_012209.1:g.154910C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698881.1:c.1708C>G | ENSP00000514003.1:p.Pro570Ala | |
| ENST00000418331.7:c.1366C>G MANE Select | ENSP00000400010.2:p.Pro456Ala | |
| ENST00000418331.6:c.1366C>G | ENSP00000400010.2:p.Pro456Ala | |
| ENST00000440289.6:c.1366C>G | ENSP00000409733.2:p.Pro456Ala | |
| ENST00000613246.4:c.1366C>G | ENSP00000477933.1:p.Pro456Ala | |
| ENST00000615445.4:c.1366C>G | ENSP00000479342.1:p.Pro456Ala | |
| NM_001098503.1:c.1366C>G | NP_001091973.1:p.Pro456Ala | |
| NM_002843.3:c.1366C>G | NP_002834.3:p.Pro456Ala | |
| XM_011520249.1:c.1399C>G | XP_011518551.1:p.Pro467Ala | |
| XR_930883.1:n.1716C>G | ||
| XM_017018083.1:c.1444C>G | XP_016873572.1:p.Pro482Ala | |
| XM_017018084.1:c.1387C>G | XP_016873573.1:p.Pro463Ala | |
| XM_017018085.1:c.1318C>G | XP_016873574.1:p.Pro440Ala | |
| XR_930883.2:n.1775C>G | ||
| NM_002843.4:c.1366C>G MANE Select | NP_002834.3:p.Pro456Ala | |
| NM_001098503.2:c.1366C>G | NP_001091973.1:p.Pro456Ala |