Linked Data
dbSNP Id:
rs1302455451
gnomAD v2:
15-91509565-T-C
gnomAD v3:
15-90966335-T-C
gnomAD v4:
15-90966335-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90966335T>C , CM000677.2:g.90966335T>C | GRCh38 |
| NC_000015.9:g.91509565T>C , CM000677.1:g.91509565T>C | GRCh37 |
| NC_000015.8:g.89310569T>C | NCBI36 |
| NG_050647.1:g.33317A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394249.8:c.*796A>G MANE Select | ENSP00000377793.3:n.*796A>G | |
| ENST00000643536.1:c.*4421A>G | ENSP00000494429.1:n.*4421A>G | |
| ENST00000361188.9:c.*796A>G | ENSP00000354679.5:n.*796A>G | |
| ENST00000394249.7:c.*796A>G | ENSP00000377793.3:n.*796A>G | |
| ENST00000556972.6:c.443A>G | ENSP00000456737.1:n.443A>G | |
| NM_001267580.1:c.*839A>G | NP_001254509.1:n.*839A>G | |
| NM_003981.3:c.*796A>G | NP_003972.1:n.*796A>G | |
| NM_199413.2:c.*796A>G | NP_955445.1:n.*796A>G | |
| XM_005254987.1:c.*839A>G | XP_005255044.1:n.*839A>G | |
| XM_006720759.1:c.*890A>G | XP_006720822.1:n.*890A>G | |
| XM_006720760.1:c.*302A>G | XP_006720823.1:n.*302A>G | |
| XM_011522187.1:c.*244A>G | XP_011520489.1:n.*244A>G | |
| XM_011522188.1:c.*244A>G | XP_011520490.1:n.*244A>G | |
| XM_011522189.1:c.*244A>G | XP_011520491.1:n.*244A>G | |
| XM_011522190.1:c.*244A>G | XP_011520492.1:n.*244A>G | |
| XM_011522192.1:c.*244A>G | XP_011520494.1:n.*244A>G | |
| XM_005254987.3:c.*839A>G | XP_005255044.1:n.*839A>G | |
| XM_006720759.2:c.*890A>G | XP_006720822.1:n.*890A>G | |
| XM_006720760.2:c.*302A>G | XP_006720823.1:n.*302A>G | |
| XM_011522187.2:c.*244A>G | XP_011520489.1:n.*244A>G | |
| XM_011522188.3:c.*244A>G | XP_011520490.1:n.*244A>G | |
| XM_011522189.2:c.*244A>G | XP_011520491.1:n.*244A>G | |
| XM_011522191.3:c.*341A>G | XP_011520493.1:n.*341A>G | |
| XM_011522192.2:c.*244A>G | XP_011520494.1:n.*244A>G | |
| XM_017022712.2:c.*796A>G | XP_016878201.1:n.*796A>G | |
| XM_017022713.2:c.*796A>G | XP_016878202.1:n.*796A>G | |
| XM_017022715.2:c.*796A>G | XP_016878204.1:n.*796A>G | |
| XM_017022716.2:c.*796A>G | XP_016878205.1:n.*796A>G | |
| XM_017022717.1:c.*839A>G | XP_016878206.1:n.*839A>G | |
| NM_003981.4:c.*796A>G MANE Select | NP_003972.2:n.*796A>G | |
| NM_001267580.2:c.*839A>G | NP_001254509.2:n.*839A>G | |
| NM_199413.3:c.*796A>G | NP_955445.2:n.*796A>G |