Linked Data
dbSNP Id:
rs756553232
ExAC:
8:87588174 A / G
gnomAD v2:
8-87588174-A-G
gnomAD v3:
8-86575946-A-G
gnomAD v4:
8-86575946-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86575946A>G , CM000670.2:g.86575946A>G | GRCh38 |
| NC_000008.10:g.87588174A>G , CM000670.1:g.87588174A>G | GRCh37 |
| NC_000008.9:g.87657290A>G | NCBI36 |
| NG_016980.1:g.172730T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.2288T>C MANE Select | ENSP00000316605.5:p.Val763Ala | |
| ENST00000681546.1:n.2108T>C | ||
| ENST00000681746.1:c.*699T>C | ENSP00000505959.1:n.*699T>C | |
| ENST00000320005.5:c.2288T>C | ENSP00000316605.5:p.Val763Ala | |
| ENST00000517327.5:c.276+2743T>C | ENSP00000428329.1:n.276+2743T>C | |
| NM_019098.4:c.2288T>C | NP_061971.3:p.Val763Ala | |
| XM_011517138.1:c.1874T>C | XP_011515440.1:p.Val625Ala | |
| XM_011517138.2:c.1874T>C | XP_011515440.1:p.Val625Ala | |
| NM_019098.5:c.2288T>C MANE Select | NP_061971.3:p.Val763Ala |