Linked Data
dbSNP Id:
rs182677992
gnomAD v2:
1-218614769-C-T
gnomAD v3:
1-218441427-C-T
gnomAD v4:
1-218441427-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.218441427C>T , CM000663.2:g.218441427C>T | GRCh38 |
| NC_000001.10:g.218614769C>T , CM000663.1:g.218614769C>T | GRCh37 |
| NC_000001.9:g.216681392C>T | NCBI36 |
| NG_027721.1:g.101094C>T | |
| NG_027721.2:g.101094C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366930.9:c.*65C>T MANE Select | ENSP00000355897.4:n.*65C>T | |
| ENST00000366929.4:c.*65C>T | ENSP00000355896.4:n.*65C>T | |
| ENST00000366930.8:c.*65C>T | ENSP00000355897.4:n.*65C>T | |
| ENST00000479322.1:n.794C>T | ||
| NM_001135599.2:c.*65C>T | NP_001129071.1:n.*65C>T | |
| NM_003238.3:c.*65C>T | NP_003229.1:n.*65C>T | |
| NM_001135599.3:c.*65C>T | NP_001129071.1:n.*65C>T | |
| NM_003238.4:c.*65C>T | NP_003229.1:n.*65C>T | |
| NR_138148.1:n.2613C>T | ||
| NR_138149.1:n.2697C>T | ||
| NM_003238.5:c.*65C>T | NP_003229.1:n.*65C>T | |
| NM_003238.6:c.*65C>T MANE Select | NP_003229.1:n.*65C>T | |
| NM_001135599.4:c.*65C>T | NP_001129071.1:n.*65C>T | |
| NR_138148.2:n.2561C>T | ||
| NR_138149.2:n.2645C>T |