Linked Data
dbSNP Id:
rs752973745
ExAC:
8:87588168 T / C
gnomAD v2:
8-87588168-T-C
gnomAD v4:
8-86575940-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86575940T>C , CM000670.2:g.86575940T>C | GRCh38 |
| NC_000008.10:g.87588168T>C , CM000670.1:g.87588168T>C | GRCh37 |
| NC_000008.9:g.87657284T>C | NCBI36 |
| NG_016980.1:g.172736A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.2294A>G MANE Select | ENSP00000316605.5:p.Glu765Gly | |
| ENST00000681546.1:n.2114A>G | ||
| ENST00000681746.1:c.*705A>G | ENSP00000505959.1:n.*705A>G | |
| ENST00000320005.5:c.2294A>G | ENSP00000316605.5:p.Glu765Gly | |
| ENST00000517327.5:c.276+2749A>G | ENSP00000428329.1:n.276+2749A>G | |
| NM_019098.4:c.2294A>G | NP_061971.3:p.Glu765Gly | |
| XM_011517138.1:c.1880A>G | XP_011515440.1:p.Glu627Gly | |
| XM_011517138.2:c.1880A>G | XP_011515440.1:p.Glu627Gly | |
| NM_019098.5:c.2294A>G MANE Select | NP_061971.3:p.Glu765Gly |