Linked Data
ClinVar Variation Id:
2340688
ClinVar RCV Id:
RCV004187504
dbSNP Id:
rs1397918307
gnomAD v4:
1-966554-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.966554C>T , CM000663.2:g.966554C>T | GRCh38 |
| NC_000001.10:g.901934C>T , CM000663.1:g.901934C>T | GRCh37 |
| NC_000001.9:g.891797C>T | NCBI36 |
| NG_027546.1:g.10968C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379410.8:c.23C>T MANE Select | ENSP00000368720.3:p.Pro8Leu | |
| ENST00000379407.7:c.23C>T | ENSP00000368717.2:p.Pro8Leu | |
| ENST00000379409.6:c.23C>T | ENSP00000368719.2:p.Pro8Leu | |
| ENST00000379410.7:c.23C>T | ENSP00000368720.3:p.Pro8Leu | |
| NM_001160184.1:c.23C>T | NP_001153656.1:p.Pro8Leu | |
| NM_032129.2:c.23C>T | NP_115505.2:p.Pro8Leu | |
| XM_006710944.2:c.23C>T | XP_006711007.1:p.Pro8Leu | |
| XM_011542248.1:c.23C>T | XP_011540550.1:p.Pro8Leu | |
| XM_011542249.1:c.23C>T | XP_011540551.1:p.Pro8Leu | |
| XM_011542250.1:c.23C>T | XP_011540552.1:p.Pro8Leu | |
| XR_946777.1:n.23C>T | ||
| XM_006710944.3:c.347C>T | XP_006711007.2:p.Pro116Leu | |
| XM_011542248.2:c.347C>T | XP_011540550.2:p.Pro116Leu | |
| XM_017002474.1:c.347C>T | XP_016857963.1:p.Pro116Leu | |
| XM_017002475.1:c.347C>T | XP_016857964.1:p.Pro116Leu | |
| XM_017002476.1:c.347C>T | XP_016857965.1:p.Pro116Leu | |
| XM_017002477.1:c.347C>T | XP_016857966.1:p.Pro116Leu | |
| XM_017002478.2:c.347C>T | XP_016857967.1:p.Pro116Leu | |
| XM_017002479.1:c.347C>T | XP_016857968.1:p.Pro116Leu | |
| XR_001737478.1:n.735C>T | ||
| NM_001160184.2:c.23C>T | NP_001153656.1:p.Pro8Leu | |
| NM_001367552.1:c.23C>T | NP_001354481.1:p.Pro8Leu | |
| NM_032129.3:c.23C>T MANE Select | NP_115505.2:p.Pro8Leu |