Linked Data
dbSNP Id:
rs565325389
gnomAD v2:
15-91509571-C-T
gnomAD v3:
15-90966341-C-T
gnomAD v4:
15-90966341-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90966341C>T , CM000677.2:g.90966341C>T | GRCh38 |
| NC_000015.9:g.91509571C>T , CM000677.1:g.91509571C>T | GRCh37 |
| NC_000015.8:g.89310575C>T | NCBI36 |
| NG_050647.1:g.33311G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394249.8:c.*790G>A MANE Select | ENSP00000377793.3:n.*790G>A | |
| ENST00000643536.1:c.*4415G>A | ENSP00000494429.1:n.*4415G>A | |
| ENST00000361188.9:c.*790G>A | ENSP00000354679.5:n.*790G>A | |
| ENST00000394249.7:c.*790G>A | ENSP00000377793.3:n.*790G>A | |
| ENST00000556972.6:c.437G>A | ENSP00000456737.1:n.437G>A | |
| NM_001267580.1:c.*833G>A | NP_001254509.1:n.*833G>A | |
| NM_003981.3:c.*790G>A | NP_003972.1:n.*790G>A | |
| NM_199413.2:c.*790G>A | NP_955445.1:n.*790G>A | |
| XM_005254987.1:c.*833G>A | XP_005255044.1:n.*833G>A | |
| XM_006720759.1:c.*884G>A | XP_006720822.1:n.*884G>A | |
| XM_006720760.1:c.*296G>A | XP_006720823.1:n.*296G>A | |
| XM_011522187.1:c.*238G>A | XP_011520489.1:n.*238G>A | |
| XM_011522188.1:c.*238G>A | XP_011520490.1:n.*238G>A | |
| XM_011522189.1:c.*238G>A | XP_011520491.1:n.*238G>A | |
| XM_011522190.1:c.*238G>A | XP_011520492.1:n.*238G>A | |
| XM_011522192.1:c.*238G>A | XP_011520494.1:n.*238G>A | |
| XM_005254987.3:c.*833G>A | XP_005255044.1:n.*833G>A | |
| XM_006720759.2:c.*884G>A | XP_006720822.1:n.*884G>A | |
| XM_006720760.2:c.*296G>A | XP_006720823.1:n.*296G>A | |
| XM_011522187.2:c.*238G>A | XP_011520489.1:n.*238G>A | |
| XM_011522188.3:c.*238G>A | XP_011520490.1:n.*238G>A | |
| XM_011522189.2:c.*238G>A | XP_011520491.1:n.*238G>A | |
| XM_011522191.3:c.*335G>A | XP_011520493.1:n.*335G>A | |
| XM_011522192.2:c.*238G>A | XP_011520494.1:n.*238G>A | |
| XM_017022712.2:c.*790G>A | XP_016878201.1:n.*790G>A | |
| XM_017022713.2:c.*790G>A | XP_016878202.1:n.*790G>A | |
| XM_017022715.2:c.*790G>A | XP_016878204.1:n.*790G>A | |
| XM_017022716.2:c.*790G>A | XP_016878205.1:n.*790G>A | |
| XM_017022717.1:c.*833G>A | XP_016878206.1:n.*833G>A | |
| NM_003981.4:c.*790G>A MANE Select | NP_003972.2:n.*790G>A | |
| NM_001267580.2:c.*833G>A | NP_001254509.2:n.*833G>A | |
| NM_199413.3:c.*790G>A | NP_955445.2:n.*790G>A |