Linked Data
dbSNP Id:
rs560368642
gnomAD v2:
15-91509566-C-G
gnomAD v3:
15-90966336-C-G
gnomAD v4:
15-90966336-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90966336C>G , CM000677.2:g.90966336C>G | GRCh38 |
| NC_000015.9:g.91509566C>G , CM000677.1:g.91509566C>G | GRCh37 |
| NC_000015.8:g.89310570C>G | NCBI36 |
| NG_050647.1:g.33316G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394249.8:c.*795G>C MANE Select | ENSP00000377793.3:n.*795G>C | |
| ENST00000643536.1:c.*4420G>C | ENSP00000494429.1:n.*4420G>C | |
| ENST00000361188.9:c.*795G>C | ENSP00000354679.5:n.*795G>C | |
| ENST00000394249.7:c.*795G>C | ENSP00000377793.3:n.*795G>C | |
| ENST00000556972.6:c.442G>C | ENSP00000456737.1:n.442G>C | |
| NM_001267580.1:c.*838G>C | NP_001254509.1:n.*838G>C | |
| NM_003981.3:c.*795G>C | NP_003972.1:n.*795G>C | |
| NM_199413.2:c.*795G>C | NP_955445.1:n.*795G>C | |
| XM_005254987.1:c.*838G>C | XP_005255044.1:n.*838G>C | |
| XM_006720759.1:c.*889G>C | XP_006720822.1:n.*889G>C | |
| XM_006720760.1:c.*301G>C | XP_006720823.1:n.*301G>C | |
| XM_011522187.1:c.*243G>C | XP_011520489.1:n.*243G>C | |
| XM_011522188.1:c.*243G>C | XP_011520490.1:n.*243G>C | |
| XM_011522189.1:c.*243G>C | XP_011520491.1:n.*243G>C | |
| XM_011522190.1:c.*243G>C | XP_011520492.1:n.*243G>C | |
| XM_011522192.1:c.*243G>C | XP_011520494.1:n.*243G>C | |
| XM_005254987.3:c.*838G>C | XP_005255044.1:n.*838G>C | |
| XM_006720759.2:c.*889G>C | XP_006720822.1:n.*889G>C | |
| XM_006720760.2:c.*301G>C | XP_006720823.1:n.*301G>C | |
| XM_011522187.2:c.*243G>C | XP_011520489.1:n.*243G>C | |
| XM_011522188.3:c.*243G>C | XP_011520490.1:n.*243G>C | |
| XM_011522189.2:c.*243G>C | XP_011520491.1:n.*243G>C | |
| XM_011522191.3:c.*340G>C | XP_011520493.1:n.*340G>C | |
| XM_011522192.2:c.*243G>C | XP_011520494.1:n.*243G>C | |
| XM_017022712.2:c.*795G>C | XP_016878201.1:n.*795G>C | |
| XM_017022713.2:c.*795G>C | XP_016878202.1:n.*795G>C | |
| XM_017022715.2:c.*795G>C | XP_016878204.1:n.*795G>C | |
| XM_017022716.2:c.*795G>C | XP_016878205.1:n.*795G>C | |
| XM_017022717.1:c.*838G>C | XP_016878206.1:n.*838G>C | |
| NM_003981.4:c.*795G>C MANE Select | NP_003972.2:n.*795G>C | |
| NM_001267580.2:c.*838G>C | NP_001254509.2:n.*838G>C | |
| NM_199413.3:c.*795G>C | NP_955445.2:n.*795G>C |