Linked Data
ClinVar Variation Id:
227239
dbSNP Id:
rs531195164
ExAC:
10:73572518 T / C
gnomAD v2:
10-73572518-T-C
gnomAD v3:
10-71812761-T-C
gnomAD v4:
10-71812761-T-C
MyVariant Identifiers:
chr10:g.73572518T>C (hg19)
chr10:g.73572518_73572519delinsCC (hg19)
chr10:g.71812761T>C (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71812761T>C , CM000672.2:g.71812761T>C | GRCh38 |
| NC_000010.10:g.73572518T>C , CM000672.1:g.73572518T>C | GRCh37 |
| NC_000010.9:g.73242524T>C | NCBI36 |
| NG_008835.1:g.420815T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.9511-7T>C MANE Select | ENSP00000224721.9:n.9511-7T>C | |
| ENST00000642965.1:c.3444-7T>C | ENSP00000495222.1:n.3444-7T>C | |
| ENST00000647092.1:c.3108-7T>C | ENSP00000495176.1:n.3108-7T>C | |
| ENST00000224721.10:c.9526-7T>C | ENSP00000224721.8:n.9526-7T>C | |
| ENST00000398788.4:c.2791-7T>C | ENSP00000381768.3:n.2791-7T>C | |
| ENST00000475158.1:n.3047-7T>C | ||
| ENST00000619887.4:c.2791-7T>C | ENSP00000478374.1:n.2791-7T>C | |
| ENST00000622827.4:c.9511-7T>C | ENSP00000483211.1:n.9511-7T>C | |
| NM_001171933.1:c.2791-7T>C | NP_001165404.1:n.2791-7T>C | |
| NM_001171934.1:c.2791-7T>C | NP_001165405.1:n.2791-7T>C | |
| NM_001171935.1:c.202-7T>C | NP_001165406.1:n.202-7T>C | |
| NM_001171936.1:c.202-7T>C | NP_001165407.1:n.202-7T>C | |
| NM_022124.5:c.9511-7T>C | NP_071407.4:n.9511-7T>C | |
| XM_006717940.2:c.9706-7T>C | XP_006718003.1:n.9706-7T>C | |
| XM_006717942.2:c.9640-7T>C | XP_006718005.1:n.9640-7T>C | |
| XM_011540039.1:c.9703-7T>C | XP_011538341.1:n.9703-7T>C | |
| XM_011540040.1:c.9700-7T>C | XP_011538342.1:n.9700-7T>C | |
| XM_011540041.1:c.9646-7T>C | XP_011538343.1:n.9646-7T>C | |
| XM_011540042.1:c.9616-7T>C | XP_011538344.1:n.9616-7T>C | |
| XM_011540043.1:c.9706-7T>C | XP_011538345.1:n.9706-7T>C | |
| XM_011540044.1:c.9571-7T>C | XP_011538346.1:n.9571-7T>C | |
| XM_011540045.1:c.9706-7T>C | XP_011538347.1:n.9706-7T>C | |
| XM_011540046.1:c.9166-7T>C | XP_011538348.1:n.9166-7T>C | |
| XM_011540047.1:c.8524-7T>C | XP_011538349.1:n.8524-7T>C | |
| XM_011540052.1:c.6034-7T>C | XP_011538354.1:n.6034-7T>C | |
| NM_022124.6:c.9511-7T>C MANE Select | NP_071407.4:n.9511-7T>C |