Linked Data
ClinVar Variation Id:
2784674
ClinVar RCV Id:
RCV003662381
dbSNP Id:
rs1600552359
gnomAD v4:
18-49575525-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.49575525C>T , CM000680.2:g.49575525C>T | GRCh38 |
| NC_000018.9:g.47101895C>T , CM000680.1:g.47101895C>T | GRCh37 |
| NC_000018.8:g.45355893C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261292.9:c.728C>T MANE Select | ENSP00000261292.4:p.Pro243Leu | |
| ENST00000261292.8:c.728C>T | ENSP00000261292.4:p.Pro243Leu | |
| ENST00000427224.6:c.572-5890C>T | ENSP00000387978.2:n.572-5890C>T | |
| ENST00000577628.5:c.836C>T | ENSP00000463835.1:p.Pro279Leu | |
| ENST00000580036.5:c.728C>T | ENSP00000462420.1:p.Pro243Leu | |
| NM_001308006.1:c.572-5890C>T | NP_001294935.1:n.572-5890C>T | |
| NM_006033.2:c.728C>T | NP_006024.1:p.Pro243Leu | |
| NM_006033.3:c.728C>T | NP_006024.1:p.Pro243Leu | |
| XM_005258390.1:c.836C>T | XP_005258447.1:p.Pro279Leu | |
| XM_011526265.1:c.680-5890C>T | XP_011524567.1:n.680-5890C>T | |
| XM_011526267.1:c.488C>T | XP_011524569.1:p.Pro163Leu | |
| XM_011526265.3:c.680-5890C>T | XP_011524567.1:n.680-5890C>T | |
| XM_017026095.1:c.137C>T | XP_016881584.1:p.Pro46Leu | |
| NM_006033.4:c.728C>T MANE Select | NP_006024.1:p.Pro243Leu | |
| NM_001308006.2:c.572-5890C>T | NP_001294935.1:n.572-5890C>T |