Linked Data
dbSNP Id:
rs780794394
ExAC:
7:150558289 C / A
gnomAD v2:
7-150558289-C-A
gnomAD v3:
7-150861201-C-A
gnomAD v4:
7-150861201-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150861201C>A , CM000669.2:g.150861201C>A | GRCh38 |
| NC_000007.13:g.150558289C>A , CM000669.1:g.150558289C>A | GRCh37 |
| NC_000007.12:g.150189222C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360937.9:c.2248C>A MANE Select | ENSP00000354193.4:p.Pro750Thr | |
| ENST00000360937.8:c.2248C>A | ENSP00000354193.4:p.Pro750Thr | |
| ENST00000416793.6:c.2305C>A | ENSP00000411613.2:p.Pro769Thr | |
| ENST00000467291.5:c.2248C>A | ENSP00000418328.1:p.Pro750Thr | |
| ENST00000480582.1:n.925C>A | ||
| ENST00000493429.5:c.2248C>A | ENSP00000418614.1:p.Pro750Thr | |
| ENST00000619575.1:c.*105C>A | ENSP00000481717.1:n.*105C>A | |
| ENST00000622116.4:c.*240C>A | ENSP00000481520.1:n.*240C>A | |
| NM_001091.3:c.2248C>A | NP_001082.2:p.Pro750Thr | |
| NM_001272072.1:c.2305C>A | NP_001259001.1:p.Pro769Thr | |
| XM_011516008.1:c.2305C>A | XP_011514310.1:p.Pro769Thr | |
| XM_011516009.1:c.2248C>A | XP_011514311.1:p.Pro750Thr | |
| XR_928169.1:n.295+15808G>T | ||
| XR_928170.1:n.425+7415G>T | ||
| XR_928171.1:n.297+15808G>T | ||
| XM_017011944.1:c.2305C>A | XP_016867433.1:p.Pro769Thr | |
| XM_017011945.1:c.2305C>A | XP_016867434.1:p.Pro769Thr | |
| XM_017011946.2:c.2305C>A | XP_016867435.1:p.Pro769Thr | |
| XM_017011947.1:c.2248C>A | XP_016867436.1:p.Pro750Thr | |
| XR_928169.2:n.301+15808G>T | ||
| XR_928171.2:n.301+15808G>T | ||
| NM_001091.4:c.2248C>A MANE Select | NP_001082.2:p.Pro750Thr | |
| NM_001272072.2:c.2305C>A | NP_001259001.1:p.Pro769Thr |