Linked Data
dbSNP Id:
rs762686593
ExAC:
1:983625 C / G
gnomAD v3:
1-1048245-C-G
gnomAD v4:
1-1048245-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1048245C>G , CM000663.2:g.1048245C>G | GRCh38 |
| NC_000001.10:g.983625C>G , CM000663.1:g.983625C>G | GRCh37 |
| NC_000001.9:g.973488C>G | NCBI36 |
| NG_016346.1:g.33123C>G , LRG_198:g.33123C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379370.7:c.3985C>G MANE Select | ENSP00000368678.2:p.Pro1329Ala | |
| ENST00000651234.1:c.3670C>G | ENSP00000499046.1:p.Pro1224Ala | |
| ENST00000652369.1:c.3670C>G | ENSP00000498543.1:p.Pro1224Ala | |
| ENST00000379370.6:c.3985C>G | ENSP00000368678.2:p.Pro1329Ala | |
| ENST00000620552.4:c.3571C>G | ENSP00000484607.1:p.Pro1191Ala | |
| NM_001305275.1:c.3985C>G | NP_001292204.1:p.Pro1329Ala | |
| NM_198576.3:c.3985C>G | NP_940978.2:p.Pro1329Ala | |
| XM_005244749.2:c.3985C>G | XP_005244806.1:p.Pro1329Ala | |
| XM_006710635.2:c.3985C>G | XP_006710698.1:p.Pro1329Ala | |
| XM_011541429.1:c.3985C>G | XP_011539731.1:p.Pro1329Ala | |
| XM_011541430.1:c.3112C>G | XP_011539732.1:p.Pro1038Ala | |
| XM_011541431.1:c.2251C>G | XP_011539733.1:p.Pro751Ala | |
| XR_946650.1:n.4052C>G | ||
| NM_001364727.1:c.3670C>G | NP_001351656.1:p.Pro1224Ala | |
| XM_005244749.3:c.3985C>G | XP_005244806.1:p.Pro1329Ala | |
| XM_011541429.2:c.3985C>G | XP_011539731.1:p.Pro1329Ala | |
| XR_946650.2:n.4056C>G | ||
| NM_001305275.2:c.3985C>G | NP_001292204.1:p.Pro1329Ala | |
| NM_198576.4:c.3985C>G MANE Select | NP_940978.2:p.Pro1329Ala | |
| NM_001364727.2:c.3670C>G | NP_001351656.1:p.Pro1224Ala |