Linked Data
dbSNP Id:
rs931174672
gnomAD v2:
8-134145358-A-G
gnomAD v3:
8-133133114-A-G
gnomAD v4:
8-133133114-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.133133114A>G , CM000670.2:g.133133114A>G | GRCh38 |
| NC_000008.10:g.134145358A>G , CM000670.1:g.134145358A>G | GRCh37 |
| NC_000008.9:g.134214540A>G | NCBI36 |
| NG_015832.1:g.271154A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220616.9:c.7998-356A>G MANE Select | ENSP00000220616.4:n.7998-356A>G | |
| ENST00000220616.8:c.7998-356A>G | ENSP00000220616.4:n.7998-356A>G | |
| ENST00000519178.5:c.3364-356A>G | ||
| ENST00000519543.5:c.2397-356A>G | ENSP00000430430.1:n.2397-356A>G | |
| ENST00000521107.1:c.210-356A>G | ENSP00000430161.1:n.210-356A>G | |
| ENST00000523756.5:c.4653-356A>G | ||
| NM_003235.4:c.7998-356A>G | NP_003226.4:n.7998-356A>G | |
| XM_005251038.3:c.7806-356A>G | XP_005251095.1:n.7806-356A>G | |
| XM_006716622.2:c.7935-356A>G | XP_006716685.1:n.7935-356A>G | |
| XM_005251038.4:c.7806-356A>G | XP_005251095.1:n.7806-356A>G | |
| XM_006716622.3:c.7935-356A>G | XP_006716685.1:n.7935-356A>G | |
| XM_017013793.1:c.7932-356A>G | XP_016869282.1:n.7932-356A>G | |
| XM_017013794.1:c.7863-356A>G | XP_016869283.1:n.7863-356A>G | |
| XM_017013795.1:c.7827-356A>G | XP_016869284.1:n.7827-356A>G | |
| XM_017013796.1:c.7779-356A>G | XP_016869285.1:n.7779-356A>G | |
| XM_017013797.1:c.7737-356A>G | XP_016869286.1:n.7737-356A>G | |
| NM_003235.5:c.7998-356A>G MANE Select | NP_003226.4:n.7998-356A>G |