Linked Data
dbSNP Id:
rs2181540
gnomAD v2:
13-113753164-T-C
gnomAD v3:
13-113098850-T-C
gnomAD v4:
13-113098850-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113098850T>C , CM000675.2:g.113098850T>C | GRCh38 |
| NC_000013.10:g.113753164T>C , CM000675.1:g.113753164T>C | GRCh37 |
| NC_000013.9:g.112801165T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000420013.6:c.*1991T>C | ENSP00000404422.2:n.*1991T>C | |
| ENST00000535094.7:c.*1991T>C MANE Select | ENSP00000440374.2:n.*1991T>C | |
| ENST00000375604.6:c.*1991T>C | ENSP00000364754.3:n.*1991T>C | |
| ENST00000397030.5:c.*2363T>C | ENSP00000380225.1:n.*2363T>C | |
| NM_001112732.2:c.*1991T>C | NP_001106203.2:n.*1991T>C | |
| NM_024979.4:c.*1991T>C | NP_079255.4:n.*1991T>C | |
| NM_001320815.1:c.*1991T>C | NP_001307744.1:n.*1991T>C | |
| NM_001320816.1:c.*1991T>C | NP_001307745.1:n.*1991T>C | |
| NM_001366644.1:c.*1991T>C | NP_001353573.1:n.*1991T>C | |
| NM_001366645.1:c.*1991T>C | NP_001353574.1:n.*1991T>C | |
| NM_001366646.1:c.*1991T>C | NP_001353575.1:n.*1991T>C | |
| NM_001112732.3:c.*1991T>C MANE Select | NP_001106203.2:n.*1991T>C | |
| NM_001320815.2:c.*1991T>C | NP_001307744.1:n.*1991T>C | |
| NM_001320816.2:c.*1991T>C | NP_001307745.1:n.*1991T>C | |
| NM_001366644.2:c.*1991T>C | NP_001353573.1:n.*1991T>C | |
| NM_001366645.2:c.*1991T>C | NP_001353574.1:n.*1991T>C | |
| NM_001366646.2:c.*1991T>C | NP_001353575.1:n.*1991T>C |