Linked Data
ClinVar Variation Id:
18062
ClinVar RCV Id:
RCV000019685
dbSNP Id:
rs121912703
ExAC:
17:61574338 C / T
gnomAD v2:
17-61574338-C-T
gnomAD v3:
17-63496977-C-T
gnomAD v4:
17-63496977-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63496977C>T , CM000679.2:g.63496977C>T | GRCh38 |
| NC_000017.10:g.61574338C>T , CM000679.1:g.61574338C>T | GRCh37 |
| NC_000017.9:g.58928070C>T | NCBI36 |
| NG_011648.1:g.24905C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000290866.10:c.3683C>T MANE Select | ENSP00000290866.4:p.Pro1228Leu | |
| ENST00000290863.10:c.1961C>T | ENSP00000290863.6:p.Pro654Leu | |
| ENST00000290866.9:c.3683C>T | ENSP00000290866.4:p.Pro1228Leu | |
| ENST00000413513.7:c.1838C>T | ENSP00000392247.3:p.Pro613Leu | |
| ENST00000428043.5:c.3683C>T | ENSP00000397593.2:p.Pro1228Leu | |
| ENST00000577418.5:n.693C>T | ||
| ENST00000577647.2:c.1961C>T | ENSP00000464149.1:p.Pro654Leu | |
| ENST00000578839.5:c.*1438C>T | ENSP00000462110.2:n.*1438C>T | |
| ENST00000579314.5:c.*1412C>T | ENSP00000462599.1:n.*1412C>T | |
| ENST00000579409.1:c.370C>T | ||
| ENST00000582244.1:n.557C>T | ||
| NM_000789.3:c.3683C>T | NP_000780.1:p.Pro1228Leu | |
| NM_001178057.1:c.1838C>T | NP_001171528.1:p.Pro613Leu | |
| NM_152830.2:c.1961C>T | NP_690043.1:p.Pro654Leu | |
| XM_005257110.1:c.3134C>T | XP_005257167.1:p.Pro1045Leu | |
| XM_006721737.2:c.2021C>T | XP_006721800.2:p.Pro674Leu | |
| XM_006721737.3:c.2021C>T | XP_006721800.2:p.Pro674Leu | |
| NM_000789.4:c.3683C>T MANE Select | NP_000780.1:p.Pro1228Leu | |
| NM_001178057.2:c.1838C>T | NP_001171528.1:p.Pro613Leu | |
| NM_152830.3:c.1961C>T | NP_690043.1:p.Pro654Leu | |
| NM_001382700.1:c.3116C>T | NP_001369629.1:p.Pro1039Leu | |
| NM_001382701.1:c.2831C>T | NP_001369630.1:p.Pro944Leu | |
| NM_001382702.1:c.1298C>T | NP_001369631.1:p.Pro433Leu | |
| NR_168483.1:n.2061C>T |