Linked Data
dbSNP Id:
rs11902236
gnomAD v2:
2-10117868-C-T
gnomAD v3:
2-9977740-C-T
gnomAD v4:
2-9977740-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.9977740C>T , CM000664.2:g.9977740C>T | GRCh38 |
| NC_000002.11:g.10117868C>T , CM000664.1:g.10117868C>T | GRCh37 |
| NC_000002.10:g.10035319C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000324907.14:c.1111-8384C>T MANE Select | ENSP00000324693.9:n.1111-8384C>T | |
| ENST00000324907.13:c.1111-8384C>T | ENSP00000324693.9:n.1111-8384C>T | |
| ENST00000405379.6:c.544-8384C>T | ENSP00000384209.3:n.544-8384C>T | |
| ENST00000464418.5:c.*353-8384C>T | ENSP00000420654.1:n.*353-8384C>T | |
| ENST00000472167.5:c.1111-8384C>T | ENSP00000418275.1:n.1111-8384C>T | |
| NM_198182.2:c.1111-8384C>T | NP_937825.2:n.1111-8384C>T | |
| XM_005246159.2:c.544-8384C>T | XP_005246216.1:n.544-8384C>T | |
| XM_006711882.1:c.1111-8384C>T | XP_006711945.1:n.1111-8384C>T | |
| XM_006711884.2:c.544-8384C>T | XP_006711947.1:n.544-8384C>T | |
| XM_011510343.1:c.970-8384C>T | XP_011508645.1:n.970-8384C>T | |
| XM_011510344.1:c.1111-8384C>T | XP_011508646.1:n.1111-8384C>T | |
| XM_005246159.4:c.544-8384C>T | XP_005246216.1:n.544-8384C>T | |
| XM_006711882.3:c.1111-8384C>T | XP_006711945.1:n.1111-8384C>T | |
| XM_006711884.4:c.544-8384C>T | XP_006711947.1:n.544-8384C>T | |
| XM_011510343.2:c.970-8384C>T | XP_011508645.1:n.970-8384C>T | |
| XM_017003900.1:c.658-8384C>T | XP_016859389.1:n.658-8384C>T | |
| XM_017003901.1:c.658-8384C>T | XP_016859390.1:n.658-8384C>T | |
| XR_001738726.2:n.1252-8384C>T | ||
| XR_001738727.2:n.1252-8384C>T | ||
| XR_001738728.2:n.1167-8384C>T | ||
| NM_198182.3:c.1111-8384C>T MANE Select | NP_937825.2:n.1111-8384C>T |