Linked Data
dbSNP Id:
rs1554415083
gnomAD v2:
7-74203569-C-T
gnomAD v3:
7-74789225-C-T
gnomAD v4:
7-74789225-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.74789225C>T , CM000669.2:g.74789225C>T | GRCh38 |
| NC_000007.13:g.74203569C>T , CM000669.1:g.74203569C>T | GRCh37 |
| NC_000007.12:g.73841505C>T | NCBI36 |
| NG_009078.2:g.20262C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289473.11:c.*65C>T MANE Select | ENSP00000289473.4:n.*65C>T | |
| ENST00000289473.10:c.*65C>T | ENSP00000289473.4:n.*65C>T | |
| ENST00000289473.8:c.*65C>T | ENSP00000289473.4:n.*65C>T | |
| ENST00000398421.6:n.2265C>T | ||
| ENST00000455062.2:n.1347C>T | ||
| NM_000265.5:c.*65C>T | NP_000256.4:n.*65C>T | |
| XM_005250543.3:c.*159C>T | XP_005250600.2:n.*159C>T | |
| XM_011516498.1:c.*112C>T | XP_011514800.1:n.*112C>T | |
| XM_011516501.1:c.*65C>T | XP_011514803.1:n.*65C>T | |
| NM_000265.6:c.*65C>T | NP_000256.4:n.*65C>T | |
| NM_000265.7:c.*65C>T MANE Select | NP_000256.4:n.*65C>T |