Linked Data
dbSNP Id:
rs577581227
gnomAD v2:
2-73118768-C-T
gnomAD v3:
2-72891639-C-T
gnomAD v4:
2-72891639-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.72891639C>T , CM000664.2:g.72891639C>T | GRCh38 |
| NC_000002.11:g.73118768C>T , CM000664.1:g.73118768C>T | GRCh37 |
| NC_000002.10:g.72972276C>T | NCBI36 |
| NG_008234.1:g.9257C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234454.6:c.*102C>T MANE Select | ENSP00000234454.5:n.*102C>T | |
| ENST00000234454.5:c.*102C>T | ENSP00000234454.5:n.*102C>T | |
| ENST00000498749.1:n.833C>T | ||
| NM_003124.4:c.*102C>T | NP_003115.1:n.*102C>T | |
| NM_003124.5:c.*102C>T MANE Select | NP_003115.1:n.*102C>T |