Linked Data
ClinVar Variation Id:
46054
dbSNP Id:
rs148743086
ExAC:
10:73569662 C / T
gnomAD v2:
10-73569662-C-T
gnomAD v3:
10-71809905-C-T
gnomAD v4:
10-71809905-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71809905C>T , CM000672.2:g.71809905C>T | GRCh38 |
| NC_000010.10:g.73569662C>T , CM000672.1:g.73569662C>T | GRCh37 |
| NC_000010.9:g.73239668C>T | NCBI36 |
| NG_008835.1:g.417959C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000224721.12:c.8808C>T MANE Select | ENSP00000224721.9:p.Asp2936= | |
| ENST00000642965.1:c.2741C>T | ENSP00000495222.1:n.2741C>T | |
| ENST00000647092.1:c.2405C>T | ENSP00000495176.1:n.2405C>T | |
| ENST00000224721.10:c.8823C>T | ENSP00000224721.8:p.Asp2941= | |
| ENST00000398788.4:c.2088C>T | ENSP00000381768.3:p.Asp696= | |
| ENST00000475158.1:n.2344C>T | ||
| ENST00000619887.4:c.2088C>T | ENSP00000478374.1:p.Asp696= | |
| ENST00000622827.4:c.8808C>T | ENSP00000483211.1:p.Asp2936= | |
| NM_001171933.1:c.2088C>T | NP_001165404.1:p.Asp696= | |
| NM_001171934.1:c.2088C>T | NP_001165405.1:p.Asp696= | |
| NM_022124.5:c.8808C>T | NP_071407.4:p.Asp2936= | |
| XM_006717940.2:c.9003C>T | XP_006718003.1:p.Asp3001= | |
| XM_006717942.2:c.8937C>T | XP_006718005.1:p.Asp2979= | |
| XM_011540039.1:c.9000C>T | XP_011538341.1:p.Asp3000= | |
| XM_011540040.1:c.8997C>T | XP_011538342.1:p.Asp2999= | |
| XM_011540041.1:c.8943C>T | XP_011538343.1:p.Asp2981= | |
| XM_011540042.1:c.8913C>T | XP_011538344.1:p.Asp2971= | |
| XM_011540043.1:c.9003C>T | XP_011538345.1:p.Asp3001= | |
| XM_011540044.1:c.8868C>T | XP_011538346.1:p.Asp2956= | |
| XM_011540045.1:c.9003C>T | XP_011538347.1:p.Asp3001= | |
| XM_011540046.1:c.8463C>T | XP_011538348.1:p.Asp2821= | |
| XM_011540047.1:c.7821C>T | XP_011538349.1:p.Asp2607= | |
| XM_011540052.1:c.5331C>T | XP_011538354.1:p.Asp1777= | |
| NM_022124.6:c.8808C>T MANE Select | NP_071407.4:p.Asp2936= |