Linked Data
dbSNP Id:
rs1195973802
gnomAD v2:
15-91509483-A-G
gnomAD v3:
15-90966253-A-G
gnomAD v4:
15-90966253-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90966253A>G , CM000677.2:g.90966253A>G | GRCh38 |
| NC_000015.9:g.91509483A>G , CM000677.1:g.91509483A>G | GRCh37 |
| NC_000015.8:g.89310487A>G | NCBI36 |
| NG_050647.1:g.33399T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394249.8:c.*878T>C MANE Select | ENSP00000377793.3:n.*878T>C | |
| ENST00000643536.1:c.*4503T>C | ENSP00000494429.1:n.*4503T>C | |
| ENST00000361188.9:c.*878T>C | ENSP00000354679.5:n.*878T>C | |
| ENST00000394249.7:c.*878T>C | ENSP00000377793.3:n.*878T>C | |
| ENST00000556972.6:c.525T>C | ENSP00000456737.1:n.525T>C | |
| NM_001267580.1:c.*921T>C | NP_001254509.1:n.*921T>C | |
| NM_003981.3:c.*878T>C | NP_003972.1:n.*878T>C | |
| NM_199413.2:c.*878T>C | NP_955445.1:n.*878T>C | |
| XM_005254987.1:c.*921T>C | XP_005255044.1:n.*921T>C | |
| XM_006720759.1:c.*972T>C | XP_006720822.1:n.*972T>C | |
| XM_006720760.1:c.*384T>C | XP_006720823.1:n.*384T>C | |
| XM_011522187.1:c.*326T>C | XP_011520489.1:n.*326T>C | |
| XM_011522188.1:c.*326T>C | XP_011520490.1:n.*326T>C | |
| XM_011522189.1:c.*326T>C | XP_011520491.1:n.*326T>C | |
| XM_011522190.1:c.*326T>C | XP_011520492.1:n.*326T>C | |
| XM_011522192.1:c.*326T>C | XP_011520494.1:n.*326T>C | |
| XM_005254987.3:c.*921T>C | XP_005255044.1:n.*921T>C | |
| XM_006720759.2:c.*972T>C | XP_006720822.1:n.*972T>C | |
| XM_006720760.2:c.*384T>C | XP_006720823.1:n.*384T>C | |
| XM_011522187.2:c.*326T>C | XP_011520489.1:n.*326T>C | |
| XM_011522188.3:c.*326T>C | XP_011520490.1:n.*326T>C | |
| XM_011522189.2:c.*326T>C | XP_011520491.1:n.*326T>C | |
| XM_011522191.3:c.*423T>C | XP_011520493.1:n.*423T>C | |
| XM_011522192.2:c.*326T>C | XP_011520494.1:n.*326T>C | |
| XM_017022712.2:c.*878T>C | XP_016878201.1:n.*878T>C | |
| XM_017022713.2:c.*878T>C | XP_016878202.1:n.*878T>C | |
| XM_017022715.2:c.*878T>C | XP_016878204.1:n.*878T>C | |
| XM_017022716.2:c.*878T>C | XP_016878205.1:n.*878T>C | |
| XM_017022717.1:c.*921T>C | XP_016878206.1:n.*921T>C | |
| NM_003981.4:c.*878T>C MANE Select | NP_003972.2:n.*878T>C | |
| NM_001267580.2:c.*921T>C | NP_001254509.2:n.*921T>C | |
| NM_199413.3:c.*878T>C | NP_955445.2:n.*878T>C |