Linked Data
dbSNP Id:
rs779946341
ExAC:
7:44186152 A / C
gnomAD v2:
7-44186152-A-C
gnomAD v4:
7-44146553-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44146553A>C , CM000669.2:g.44146553A>C | GRCh38 |
| NC_000007.13:g.44186152A>C , CM000669.1:g.44186152A>C | GRCh37 |
| NC_000007.12:g.44152677A>C | NCBI36 |
| NG_008847.1:g.47871T>G | |
| NG_008847.2:g.56618T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395796.8:c.*927T>G | ENSP00000379142.4:n.*927T>G | |
| ENST00000616242.5:c.*49T>G | ENSP00000482149.2:n.*49T>G | |
| ENST00000683378.1:n.155T>G | ||
| ENST00000345378.7:c.932T>G | ENSP00000223366.2:p.Val311Gly | |
| ENST00000403799.8:c.929T>G MANE Select | ENSP00000384247.3:p.Val310Gly | |
| ENST00000671824.1:c.992T>G | ENSP00000500264.1:p.Val331Gly | |
| ENST00000673284.1:c.929T>G | ENSP00000499852.1:p.Val310Gly | |
| ENST00000345378.6:c.932T>G | ENSP00000223366.2:p.Val311Gly | |
| ENST00000395796.7:c.926T>G | ENSP00000379142.3:p.Val309Gly | |
| ENST00000403799.7:c.929T>G | ENSP00000384247.3:p.Val310Gly | |
| ENST00000437084.1:c.878T>G | ENSP00000402840.1:p.Val293Gly | |
| ENST00000473353.1:n.227T>G | ||
| ENST00000616242.4:c.926T>G | ENSP00000482149.1:p.Val309Gly | |
| NM_000162.3:c.929T>G | NP_000153.1:p.Val310Gly | |
| NM_033507.1:c.932T>G | NP_277042.1:p.Val311Gly | |
| NM_033508.1:c.926T>G | NP_277043.1:p.Val309Gly | |
| NM_000162.4:c.929T>G | NP_000153.1:p.Val310Gly | |
| NM_001354800.1:c.929T>G | NP_001341729.1:p.Val310Gly | |
| NM_001354801.1:c.8+66T>G | NP_001341730.1:n.8+66T>G | |
| NM_033507.2:c.932T>G | NP_277042.1:p.Val311Gly | |
| NM_033508.2:c.926T>G | NP_277043.1:p.Val309Gly | |
| NM_000162.5:c.929T>G MANE Select | NP_000153.1:p.Val310Gly | |
| NM_033507.3:c.932T>G | NP_277042.1:p.Val311Gly | |
| NM_033508.3:c.926T>G | NP_277043.1:p.Val309Gly |