Linked Data
dbSNP Id:
rs1024874274
gnomAD v2:
7-150558561-C-T
gnomAD v3:
7-150861473-C-T
gnomAD v4:
7-150861473-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150861473C>T , CM000669.2:g.150861473C>T | GRCh38 |
| NC_000007.13:g.150558561C>T , CM000669.1:g.150558561C>T | GRCh37 |
| NC_000007.12:g.150189494C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360937.9:c.*264C>T MANE Select | ENSP00000354193.4:n.*264C>T | |
| ENST00000360937.8:c.*264C>T | ENSP00000354193.4:n.*264C>T | |
| ENST00000467291.5:c.*264C>T | ENSP00000418328.1:n.*264C>T | |
| ENST00000493429.5:c.*264C>T | ENSP00000418614.1:n.*264C>T | |
| XR_928169.1:n.295+15536G>A | ||
| XR_928170.1:n.425+7143G>A | ||
| XR_928171.1:n.297+15536G>A | ||
| XR_928169.2:n.301+15536G>A | ||
| XR_928171.2:n.301+15536G>A | ||
| NM_001091.4:c.*264C>T MANE Select | NP_001082.2:n.*264C>T | |
| NM_001272072.2:c.*264C>T | NP_001259001.1:n.*264C>T |