Linked Data
dbSNP Id:
rs1437993641
gnomAD v2:
8-134145537-G-T
gnomAD v3:
8-133133293-G-T
gnomAD v4:
8-133133293-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.133133293G>T , CM000670.2:g.133133293G>T | GRCh38 |
| NC_000008.10:g.134145537G>T , CM000670.1:g.134145537G>T | GRCh37 |
| NC_000008.9:g.134214719G>T | NCBI36 |
| NG_015832.1:g.271333G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220616.9:c.7998-177G>T MANE Select | ENSP00000220616.4:n.7998-177G>T | |
| ENST00000220616.8:c.7998-177G>T | ENSP00000220616.4:n.7998-177G>T | |
| ENST00000519178.5:c.3364-177G>T | ||
| ENST00000519543.5:c.2397-177G>T | ENSP00000430430.1:n.2397-177G>T | |
| ENST00000521107.1:c.210-177G>T | ENSP00000430161.1:n.210-177G>T | |
| ENST00000523756.5:c.4653-177G>T | ||
| NM_003235.4:c.7998-177G>T | NP_003226.4:n.7998-177G>T | |
| XM_005251038.3:c.7806-177G>T | XP_005251095.1:n.7806-177G>T | |
| XM_006716622.2:c.7935-177G>T | XP_006716685.1:n.7935-177G>T | |
| XM_005251038.4:c.7806-177G>T | XP_005251095.1:n.7806-177G>T | |
| XM_006716622.3:c.7935-177G>T | XP_006716685.1:n.7935-177G>T | |
| XM_017013793.1:c.7932-177G>T | XP_016869282.1:n.7932-177G>T | |
| XM_017013794.1:c.7863-177G>T | XP_016869283.1:n.7863-177G>T | |
| XM_017013795.1:c.7827-177G>T | XP_016869284.1:n.7827-177G>T | |
| XM_017013796.1:c.7779-177G>T | XP_016869285.1:n.7779-177G>T | |
| XM_017013797.1:c.7737-177G>T | XP_016869286.1:n.7737-177G>T | |
| NM_003235.5:c.7998-177G>T MANE Select | NP_003226.4:n.7998-177G>T |