Linked Data
ClinVar Variation Id:
1990074
ClinVar RCV Id:
RCV002800702
dbSNP Id:
rs1051181659
gnomAD v2:
10-73500603-C-G
gnomAD v4:
10-71740846-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71740846C>G , CM000672.2:g.71740846C>G | GRCh38 |
| NC_000010.10:g.73500603C>G , CM000672.1:g.73500603C>G | GRCh37 |
| NC_000010.9:g.73170609C>G | NCBI36 |
| NG_008835.1:g.348900C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000224721.12:c.4513C>G MANE Select | ENSP00000224721.9:p.Pro1505Ala | |
| ENST00000224721.10:c.4528C>G | ENSP00000224721.8:p.Pro1510Ala | |
| ENST00000398792.3:n.1202C>G | ||
| ENST00000622827.4:c.4513C>G | ENSP00000483211.1:p.Pro1505Ala | |
| NM_022124.5:c.4513C>G | NP_071407.4:p.Pro1505Ala | |
| XM_006717940.2:c.4708C>G | XP_006718003.1:p.Pro1570Ala | |
| XM_006717942.2:c.4642C>G | XP_006718005.1:p.Pro1548Ala | |
| XM_011540039.1:c.4705C>G | XP_011538341.1:p.Pro1569Ala | |
| XM_011540040.1:c.4702C>G | XP_011538342.1:p.Pro1568Ala | |
| XM_011540041.1:c.4648C>G | XP_011538343.1:p.Pro1550Ala | |
| XM_011540042.1:c.4708C>G | XP_011538344.1:p.Pro1570Ala | |
| XM_011540043.1:c.4708C>G | XP_011538345.1:p.Pro1570Ala | |
| XM_011540044.1:c.4573C>G | XP_011538346.1:p.Pro1525Ala | |
| XM_011540045.1:c.4708C>G | XP_011538347.1:p.Pro1570Ala | |
| XM_011540046.1:c.4168C>G | XP_011538348.1:p.Pro1390Ala | |
| XM_011540047.1:c.3526C>G | XP_011538349.1:p.Pro1176Ala | |
| XM_011540048.1:c.4708C>G | XP_011538350.1:p.Pro1570Ala | |
| XM_011540049.1:c.4708C>G | XP_011538351.1:p.Pro1570Ala | |
| XM_011540050.1:c.4708C>G | XP_011538352.1:p.Pro1570Ala | |
| XM_011540051.1:c.4708C>G | XP_011538353.1:p.Pro1570Ala | |
| XM_011540052.1:c.1036C>G | XP_011538354.1:p.Pro346Ala | |
| XM_011540053.1:c.4708C>G | XP_011538355.1:p.Pro1570Ala | |
| XR_945796.1:n.4951C>G | ||
| NM_022124.6:c.4513C>G MANE Select | NP_071407.4:p.Pro1505Ala |