Linked Data
ClinVar Variation Id:
300472
dbSNP Id:
rs375384238
ExAC:
10:73571205 C / T
gnomAD v2:
10-73571205-C-T
gnomAD v3:
10-71811448-C-T
gnomAD v4:
10-71811448-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71811448C>T , CM000672.2:g.71811448C>T | GRCh38 |
| NC_000010.10:g.73571205C>T , CM000672.1:g.73571205C>T | GRCh37 |
| NC_000010.9:g.73241211C>T | NCBI36 |
| NG_008835.1:g.419502C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.9198+13C>T MANE Select | ENSP00000224721.9:n.9198+13C>T | |
| ENST00000642965.1:c.3131+13C>T | ENSP00000495222.1:n.3131+13C>T | |
| ENST00000647092.1:c.2795+13C>T | ENSP00000495176.1:n.2795+13C>T | |
| ENST00000224721.10:c.9213+13C>T | ENSP00000224721.8:n.9213+13C>T | |
| ENST00000398788.4:c.2478+13C>T | ENSP00000381768.3:n.2478+13C>T | |
| ENST00000475158.1:n.2734+13C>T | ||
| ENST00000619887.4:c.2478+13C>T | ENSP00000478374.1:n.2478+13C>T | |
| ENST00000622827.4:c.9198+13C>T | ENSP00000483211.1:n.9198+13C>T | |
| NM_001171933.1:c.2478+13C>T | NP_001165404.1:n.2478+13C>T | |
| NM_001171934.1:c.2478+13C>T | NP_001165405.1:n.2478+13C>T | |
| NM_022124.5:c.9198+13C>T | NP_071407.4:n.9198+13C>T | |
| XM_006717940.2:c.9393+13C>T | XP_006718003.1:n.9393+13C>T | |
| XM_006717942.2:c.9327+13C>T | XP_006718005.1:n.9327+13C>T | |
| XM_011540039.1:c.9390+13C>T | XP_011538341.1:n.9390+13C>T | |
| XM_011540040.1:c.9387+13C>T | XP_011538342.1:n.9387+13C>T | |
| XM_011540041.1:c.9333+13C>T | XP_011538343.1:n.9333+13C>T | |
| XM_011540042.1:c.9303+13C>T | XP_011538344.1:n.9303+13C>T | |
| XM_011540043.1:c.9393+13C>T | XP_011538345.1:n.9393+13C>T | |
| XM_011540044.1:c.9258+13C>T | XP_011538346.1:n.9258+13C>T | |
| XM_011540045.1:c.9393+13C>T | XP_011538347.1:n.9393+13C>T | |
| XM_011540046.1:c.8853+13C>T | XP_011538348.1:n.8853+13C>T | |
| XM_011540047.1:c.8211+13C>T | XP_011538349.1:n.8211+13C>T | |
| XM_011540052.1:c.5721+13C>T | XP_011538354.1:n.5721+13C>T | |
| NM_022124.6:c.9198+13C>T MANE Select | NP_071407.4:n.9198+13C>T |