Linked Data
dbSNP Id:
rs760221988
ExAC:
9:107588092 T / G
gnomAD v2:
9-107588092-T-G
gnomAD v4:
9-104825811-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.104825811T>G , CM000671.2:g.104825811T>G | GRCh38 |
| NC_000009.11:g.107588092T>G , CM000671.1:g.107588092T>G | GRCh37 |
| NC_000009.10:g.106627913T>G | NCBI36 |
| NG_007981.1:g.107345A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374736.8:c.2414A>C MANE Select | ENSP00000363868.3:p.Gln805Pro | |
| ENST00000678995.1:c.2414A>C | ENSP00000504612.1:p.Gln805Pro | |
| ENST00000374736.7:c.2414A>C | ENSP00000363868.3:p.Gln805Pro | |
| ENST00000494467.1:n.587A>C | ||
| NM_005502.3:c.2414A>C | NP_005493.2:p.Gln805Pro | |
| XM_005251773.1:c.2414A>C | XP_005251830.1:p.Gln805Pro | |
| XM_005251776.1:c.2234A>C | XP_005251833.1:p.Gln745Pro | |
| XM_011518339.1:c.2489A>C | XP_011516641.1:p.Gln830Pro | |
| XM_011518340.1:c.2489A>C | XP_011516642.1:p.Gln830Pro | |
| XM_011518341.1:c.2489A>C | XP_011516643.1:p.Gln830Pro | |
| XM_011518342.1:c.2051A>C | XP_011516644.1:p.Gln684Pro | |
| XM_011518343.1:c.2489A>C | XP_011516645.1:p.Gln830Pro | |
| XM_011518344.1:c.2489A>C | XP_011516646.1:p.Gln830Pro | |
| XM_005251773.3:c.2414A>C | XP_005251830.1:p.Gln805Pro | |
| XM_005251776.3:c.2234A>C | XP_005251833.1:p.Gln745Pro | |
| XM_011518339.3:c.2489A>C | XP_011516641.1:p.Gln830Pro | |
| XM_011518340.3:c.2489A>C | XP_011516642.1:p.Gln830Pro | |
| XM_011518341.3:c.2489A>C | XP_011516643.1:p.Gln830Pro | |
| XM_011518342.3:c.2051A>C | XP_011516644.1:p.Gln684Pro | |
| XM_011518344.2:c.2489A>C | XP_011516646.1:p.Gln830Pro | |
| XM_017014378.2:c.2489A>C | XP_016869867.1:p.Gln830Pro | |
| XM_017014379.2:c.2489A>C | XP_016869868.1:p.Gln830Pro | |
| XM_017014380.2:c.2489A>C | XP_016869869.1:p.Gln830Pro | |
| XM_017014381.2:c.2489A>C | XP_016869870.1:p.Gln830Pro | |
| XM_017014382.2:c.2351A>C | XP_016869871.1:p.Gln784Pro | |
| XR_001746223.1:n.2802A>C | ||
| NM_005502.4:c.2414A>C MANE Select | NP_005493.2:p.Gln805Pro |