Linked Data
ClinVar Variation Id:
1495733
ClinVar RCV Id:
RCV001991532
dbSNP Id:
rs2100667321
gnomAD v4:
1-1048021-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1048021C>T , CM000663.2:g.1048021C>T | GRCh38 |
| NC_000001.10:g.983401C>T , CM000663.1:g.983401C>T | GRCh37 |
| NC_000001.9:g.973264C>T | NCBI36 |
| NG_016346.1:g.32899C>T , LRG_198:g.32899C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379370.7:c.3761C>T MANE Select | ENSP00000368678.2:p.Pro1254Leu | |
| ENST00000651234.1:c.3446C>T | ENSP00000499046.1:p.Pro1149Leu | |
| ENST00000652369.1:c.3446C>T | ENSP00000498543.1:p.Pro1149Leu | |
| ENST00000379370.6:c.3761C>T | ENSP00000368678.2:p.Pro1254Leu | |
| ENST00000620552.4:c.3347C>T | ENSP00000484607.1:p.Pro1116Leu | |
| NM_001305275.1:c.3761C>T | NP_001292204.1:p.Pro1254Leu | |
| NM_198576.3:c.3761C>T | NP_940978.2:p.Pro1254Leu | |
| XM_005244749.2:c.3761C>T | XP_005244806.1:p.Pro1254Leu | |
| XM_006710635.2:c.3761C>T | XP_006710698.1:p.Pro1254Leu | |
| XM_011541429.1:c.3761C>T | XP_011539731.1:p.Pro1254Leu | |
| XM_011541430.1:c.2888C>T | XP_011539732.1:p.Pro963Leu | |
| XM_011541431.1:c.2027C>T | XP_011539733.1:p.Pro676Leu | |
| XR_946650.1:n.3828C>T | ||
| NM_001364727.1:c.3446C>T | NP_001351656.1:p.Pro1149Leu | |
| XM_005244749.3:c.3761C>T | XP_005244806.1:p.Pro1254Leu | |
| XM_011541429.2:c.3761C>T | XP_011539731.1:p.Pro1254Leu | |
| XR_946650.2:n.3832C>T | ||
| NM_001305275.2:c.3761C>T | NP_001292204.1:p.Pro1254Leu | |
| NM_198576.4:c.3761C>T MANE Select | NP_940978.2:p.Pro1254Leu | |
| NM_001364727.2:c.3446C>T | NP_001351656.1:p.Pro1149Leu |