Linked Data
dbSNP Id:
rs1193746737
gnomAD v3:
7-74789259-C-T
gnomAD v4:
7-74789259-C-T
MyVariant Identifiers:
chr7:g.74789259C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.74789259C>T , CM000669.2:g.74789259C>T | GRCh38 |
| NC_000007.13:g.74203603C>T , CM000669.1:g.74203603C>T | GRCh37 |
| NC_000007.12:g.73841539C>T | NCBI36 |
| NG_009078.2:g.20296C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000289473.11:c.*99C>T MANE Select | ENSP00000289473.4:n.*99C>T | |
| ENST00000289473.10:c.*99C>T | ENSP00000289473.4:n.*99C>T | |
| ENST00000289473.8:c.*99C>T | ENSP00000289473.4:n.*99C>T | |
| ENST00000398421.6:n.2299C>T | ||
| ENST00000455062.2:n.1381C>T | ||
| NM_000265.5:c.*99C>T | NP_000256.4:n.*99C>T | |
| XM_005250543.3:c.*193C>T | XP_005250600.2:n.*193C>T | |
| XM_011516498.1:c.*146C>T | XP_011514800.1:n.*146C>T | |
| XM_011516501.1:c.*99C>T | XP_011514803.1:n.*99C>T | |
| NM_000265.6:c.*99C>T | NP_000256.4:n.*99C>T | |
| NM_000265.7:c.*99C>T MANE Select | NP_000256.4:n.*99C>T |