Linked Data
ClinVar Variation Id:
748279
ClinVar RCV Id:
RCV001491860
dbSNP Id:
rs777055497
ExAC:
1:983175 C / T
gnomAD v2:
1-983175-C-T
gnomAD v3:
1-1047795-C-T
gnomAD v4:
1-1047795-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1047795C>T , CM000663.2:g.1047795C>T | GRCh38 |
| NC_000001.10:g.983175C>T , CM000663.1:g.983175C>T | GRCh37 |
| NC_000001.9:g.973038C>T | NCBI36 |
| NG_016346.1:g.32673C>T , LRG_198:g.32673C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379370.7:c.3651C>T MANE Select | ENSP00000368678.2:p.Pro1217= | |
| ENST00000651234.1:c.3336C>T | ENSP00000499046.1:p.Pro1112= | |
| ENST00000652369.1:c.3336C>T | ENSP00000498543.1:p.Pro1112= | |
| ENST00000379370.6:c.3651C>T | ENSP00000368678.2:p.Pro1217= | |
| ENST00000466223.1:n.389C>T | ||
| ENST00000478677.1:n.233C>T | ||
| ENST00000620552.4:c.3237C>T | ENSP00000484607.1:p.Pro1079= | |
| NM_001305275.1:c.3651C>T | NP_001292204.1:p.Pro1217= | |
| NM_198576.3:c.3651C>T | NP_940978.2:p.Pro1217= | |
| XM_005244749.2:c.3651C>T | XP_005244806.1:p.Pro1217= | |
| XM_006710635.2:c.3651C>T | XP_006710698.1:p.Pro1217= | |
| XM_011541429.1:c.3651C>T | XP_011539731.1:p.Pro1217= | |
| XM_011541430.1:c.2778C>T | XP_011539732.1:p.Pro926= | |
| XM_011541431.1:c.1917C>T | XP_011539733.1:p.Pro639= | |
| XR_946650.1:n.3718C>T | ||
| NM_001364727.1:c.3336C>T | NP_001351656.1:p.Pro1112= | |
| XM_005244749.3:c.3651C>T | XP_005244806.1:p.Pro1217= | |
| XM_011541429.2:c.3651C>T | XP_011539731.1:p.Pro1217= | |
| XR_946650.2:n.3722C>T | ||
| NM_001305275.2:c.3651C>T | NP_001292204.1:p.Pro1217= | |
| NM_198576.4:c.3651C>T MANE Select | NP_940978.2:p.Pro1217= | |
| NM_001364727.2:c.3336C>T | NP_001351656.1:p.Pro1112= |