Linked Data
dbSNP Id:
rs1215972957
gnomAD v2:
7-150558377-C-T
gnomAD v3:
7-150861289-C-T
gnomAD v4:
7-150861289-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150861289C>T , CM000669.2:g.150861289C>T | GRCh38 |
| NC_000007.13:g.150558377C>T , CM000669.1:g.150558377C>T | GRCh37 |
| NC_000007.12:g.150189310C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360937.9:c.*80C>T MANE Select | ENSP00000354193.4:n.*80C>T | |
| ENST00000360937.8:c.*80C>T | ENSP00000354193.4:n.*80C>T | |
| ENST00000416793.6:c.*80C>T | ENSP00000411613.2:n.*80C>T | |
| ENST00000467291.5:c.*80C>T | ENSP00000418328.1:n.*80C>T | |
| ENST00000493429.5:c.*80C>T | ENSP00000418614.1:n.*80C>T | |
| ENST00000619575.1:c.*193C>T | ENSP00000481717.1:n.*193C>T | |
| ENST00000622116.4:c.*328C>T | ENSP00000481520.1:n.*328C>T | |
| NM_001091.3:c.*80C>T | NP_001082.2:n.*80C>T | |
| NM_001272072.1:c.*80C>T | NP_001259001.1:n.*80C>T | |
| XM_011516008.1:c.*80C>T | XP_011514310.1:n.*80C>T | |
| XM_011516009.1:c.*80C>T | XP_011514311.1:n.*80C>T | |
| XR_928169.1:n.295+15720G>A | ||
| XR_928170.1:n.425+7327G>A | ||
| XR_928171.1:n.297+15720G>A | ||
| XM_017011944.1:c.*80C>T | XP_016867433.1:n.*80C>T | |
| XM_017011945.1:c.*80C>T | XP_016867434.1:n.*80C>T | |
| XM_017011946.2:c.*80C>T | XP_016867435.1:n.*80C>T | |
| XM_017011947.1:c.*80C>T | XP_016867436.1:n.*80C>T | |
| XR_928169.2:n.301+15720G>A | ||
| XR_928171.2:n.301+15720G>A | ||
| NM_001091.4:c.*80C>T MANE Select | NP_001082.2:n.*80C>T | |
| NM_001272072.2:c.*80C>T | NP_001259001.1:n.*80C>T |