Linked Data
ClinVar Variation Id:
2300660
ClinVar RCV Id:
RCV002883034
dbSNP Id:
rs1056140548
gnomAD v2:
6-80816589-C-T
gnomAD v3:
6-80106872-C-T
gnomAD v4:
6-80106872-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.80106872C>T , CM000668.2:g.80106872C>T | GRCh38 |
| NC_000006.11:g.80816589C>T , CM000668.1:g.80816589C>T | GRCh37 |
| NC_000006.10:g.80873308C>T | NCBI36 |
| NG_009775.1:g.5246C>T | |
| NG_009775.2:g.5246C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320393.9:c.179C>T MANE Select | ENSP00000318351.5:p.Pro60Leu | |
| ENST00000320393.8:c.179C>T | ENSP00000318351.5:p.Pro60Leu | |
| ENST00000356489.9:c.179C>T | ENSP00000348880.5:p.Pro60Leu | |
| ENST00000369760.8:c.179C>T | ENSP00000358775.4:p.Pro60Leu | |
| NM_000056.3:c.179C>T | NP_000047.1:p.Pro60Leu | |
| NM_183050.2:c.179C>T | NP_898871.1:p.Pro60Leu | |
| XM_005248756.3:c.179C>T | XP_005248813.1:p.Pro60Leu | |
| XM_006715542.2:c.-15+189C>T | XP_006715605.1:n.-15+189C>T | |
| XM_011536023.1:c.179C>T | XP_011534325.1:p.Pro60Leu | |
| XM_011536024.1:c.179C>T | XP_011534326.1:p.Pro60Leu | |
| XM_011536025.1:c.179C>T | XP_011534327.1:p.Pro60Leu | |
| XM_011536027.1:c.179C>T | XP_011534329.1:p.Pro60Leu | |
| NM_000056.4:c.179C>T | NP_000047.1:p.Pro60Leu | |
| NM_001318975.1:c.-15+189C>T | NP_001305904.1:n.-15+189C>T | |
| NM_183050.3:c.179C>T | NP_898871.1:p.Pro60Leu | |
| NR_134945.1:n.263C>T | ||
| XM_005248756.5:c.179C>T | XP_005248813.1:p.Pro60Leu | |
| XM_011536023.3:c.179C>T | XP_011534325.1:p.Pro60Leu | |
| XM_011536024.3:c.179C>T | XP_011534326.1:p.Pro60Leu | |
| XM_011536025.3:c.179C>T | XP_011534327.1:p.Pro60Leu | |
| XR_001743546.2:n.209C>T | ||
| XR_001743547.2:n.209C>T | ||
| XR_001743548.2:n.209C>T | ||
| XR_001743549.2:n.209C>T | ||
| XR_002956292.1:n.209C>T | ||
| NM_183050.4:c.179C>T MANE Select | NP_898871.1:p.Pro60Leu | |
| NR_134945.2:n.202C>T | ||
| NM_000056.5:c.179C>T | NP_000047.1:p.Pro60Leu |