Linked Data
dbSNP Id:
rs10882272
gnomAD v2:
10-95348182-T-C
gnomAD v3:
10-93588425-T-C
gnomAD v4:
10-93588425-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.93588425T>C , CM000672.2:g.93588425T>C | GRCh38 |
| NC_000010.10:g.95348182T>C , CM000672.1:g.95348182T>C | GRCh37 |
| NC_000010.9:g.95338172T>C | NCBI36 |
| NG_032670.1:g.26761T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371481.9:c.*816T>C MANE Select | ENSP00000360536.5:n.*816T>C | |
| ENST00000371481.8:c.*816T>C | ENSP00000360536.4:n.*816T>C | |
| ENST00000371483.8:c.*816T>C | ENSP00000360538.4:n.*816T>C | |
| ENST00000604414.1:c.696+12206T>C | ENSP00000474477.1:n.696+12206T>C | |
| NM_001195755.1:c.*816T>C | NP_001182684.1:n.*816T>C | |
| NM_181745.3:c.*816T>C | NP_859529.2:n.*816T>C | |
| NM_001195755.2:c.*816T>C MANE Select | NP_001182684.1:n.*816T>C | |
| NM_181745.4:c.*816T>C | NP_859529.2:n.*816T>C |