Linked Data
dbSNP Id:
rs13231718
gnomAD v2:
7-95600368-T-G
gnomAD v3:
7-95971056-T-G
gnomAD v4:
7-95971056-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.95971056T>G , CM000669.2:g.95971056T>G | GRCh38 |
| NC_000007.13:g.95600368T>G , CM000669.1:g.95600368T>G | GRCh37 |
| NC_000007.12:g.95438304T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000324972.10:c.542-6456T>G | ENSP00000320130.6:n.542-6456T>G | |
| ENST00000359388.8:c.431-6456T>G | ENSP00000352348.4:n.431-6456T>G | |
| ENST00000437599.5:c.482-6456T>G | ENSP00000398118.1:n.482-6456T>G | |
| ENST00000447467.6:c.491-6456T>G MANE Select | ENSP00000392337.2:n.491-6456T>G | |
| ENST00000457059.2:c.491-6456T>G | ENSP00000412444.1:n.491-6456T>G | |
| ENST00000519371.1:n.149-6456T>G | ||
| ENST00000537881.5:c.257-6456T>G | ENSP00000438377.2:n.257-6456T>G | |
| ENST00000630942.2:c.431-6456T>G | ENSP00000486363.1:n.431-6456T>G | |
| NM_001135556.1:c.491-6456T>G | NP_001129028.1:n.491-6456T>G | |
| NM_001135557.1:c.431-6456T>G | NP_001129029.1:n.431-6456T>G | |
| NM_001278421.1:c.482-6456T>G | NP_001265350.1:n.482-6456T>G | |
| NM_001278422.1:c.431-6456T>G | NP_001265351.1:n.431-6456T>G | |
| NM_004411.4:c.542-6456T>G | NP_004402.1:n.542-6456T>G | |
| XM_011515861.1:c.542-6456T>G | XP_011514163.1:n.542-6456T>G | |
| XM_011515862.1:c.491-6456T>G | XP_011514164.1:n.491-6456T>G | |
| XM_011515863.1:c.542-6456T>G | XP_011514165.1:n.542-6456T>G | |
| XM_011515864.1:c.542-6456T>G | XP_011514166.1:n.542-6456T>G | |
| XM_011515861.2:c.542-6456T>G | XP_011514163.1:n.542-6456T>G | |
| XM_011515863.3:c.542-6456T>G | XP_011514165.1:n.542-6456T>G | |
| XM_017011804.1:c.542-6456T>G | XP_016867293.1:n.542-6456T>G | |
| XM_017011805.1:c.491-6456T>G | XP_016867294.1:n.491-6456T>G | |
| XM_017011806.2:c.491-6456T>G | XP_016867295.1:n.491-6456T>G | |
| XM_017011807.2:c.542-6456T>G | XP_016867296.1:n.542-6456T>G | |
| NM_001135556.2:c.491-6456T>G MANE Select | NP_001129028.1:n.491-6456T>G | |
| NM_001135557.2:c.431-6456T>G | NP_001129029.1:n.431-6456T>G | |
| NM_001278421.2:c.482-6456T>G | NP_001265350.1:n.482-6456T>G | |
| NM_001278422.2:c.431-6456T>G | NP_001265351.1:n.431-6456T>G | |
| NM_004411.5:c.542-6456T>G | NP_004402.1:n.542-6456T>G |