Linked Data
ClinVar Variation Id:
1959249
ClinVar RCV Id:
RCV002710159
dbSNP Id:
rs976438166
gnomAD v2:
10-73558165-C-T
gnomAD v3:
10-71798408-C-T
gnomAD v4:
10-71798408-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71798408C>T , CM000672.2:g.71798408C>T | GRCh38 |
| NC_000010.10:g.73558165C>T , CM000672.1:g.73558165C>T | GRCh37 |
| NC_000010.9:g.73228171C>T | NCBI36 |
| NG_008835.1:g.406462C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.6884C>T MANE Select | ENSP00000224721.9:p.Pro2295Leu | |
| ENST00000642965.1:c.817C>T | ENSP00000495222.1:n.817C>T | |
| ENST00000647092.1:c.481C>T | ENSP00000495176.1:n.481C>T | |
| ENST00000224721.10:c.6899C>T | ENSP00000224721.8:p.Pro2300Leu | |
| ENST00000398788.4:c.164C>T | ENSP00000381768.3:p.Pro55Leu | |
| ENST00000475158.1:n.420C>T | ||
| ENST00000619887.4:c.164C>T | ENSP00000478374.1:p.Pro55Leu | |
| ENST00000622827.4:c.6884C>T | ENSP00000483211.1:p.Pro2295Leu | |
| NM_001171933.1:c.164C>T | NP_001165404.1:p.Pro55Leu | |
| NM_001171934.1:c.164C>T | NP_001165405.1:p.Pro55Leu | |
| NM_022124.5:c.6884C>T | NP_071407.4:p.Pro2295Leu | |
| XM_006717940.2:c.7079C>T | XP_006718003.1:p.Pro2360Leu | |
| XM_006717942.2:c.7013C>T | XP_006718005.1:p.Pro2338Leu | |
| XM_011540039.1:c.7076C>T | XP_011538341.1:p.Pro2359Leu | |
| XM_011540040.1:c.7073C>T | XP_011538342.1:p.Pro2358Leu | |
| XM_011540041.1:c.7019C>T | XP_011538343.1:p.Pro2340Leu | |
| XM_011540042.1:c.6989C>T | XP_011538344.1:p.Pro2330Leu | |
| XM_011540043.1:c.7079C>T | XP_011538345.1:p.Pro2360Leu | |
| XM_011540044.1:c.6944C>T | XP_011538346.1:p.Pro2315Leu | |
| XM_011540045.1:c.7079C>T | XP_011538347.1:p.Pro2360Leu | |
| XM_011540046.1:c.6539C>T | XP_011538348.1:p.Pro2180Leu | |
| XM_011540047.1:c.5897C>T | XP_011538349.1:p.Pro1966Leu | |
| XM_011540052.1:c.3407C>T | XP_011538354.1:p.Pro1136Leu | |
| NM_022124.6:c.6884C>T MANE Select | NP_071407.4:p.Pro2295Leu |