Linked Data
dbSNP Id:
rs376123232
ExAC:
7:137776565 A / G
gnomAD v2:
7-137776565-A-G
gnomAD v3:
7-138091819-A-G
gnomAD v4:
7-138091819-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.138091819A>G , CM000669.2:g.138091819A>G | GRCh38 |
| NC_000007.13:g.137776565A>G , CM000669.1:g.137776565A>G | GRCh37 |
| NC_000007.12:g.137427105A>G | NCBI36 |
| NG_023342.1:g.20388A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242375.8:c.313A>G MANE Select | ENSP00000242375.3:p.Thr105Ala | |
| ENST00000242375.7:c.313A>G | ENSP00000242375.3:p.Thr105Ala | |
| ENST00000411726.6:c.313A>G | ENSP00000402374.2:p.Thr105Ala | |
| ENST00000432161.5:c.313A>G | ENSP00000389197.1:p.Thr105Ala | |
| ENST00000438242.1:c.145A>G | ENSP00000397042.1:p.Thr49Ala | |
| ENST00000468877.2:n.223A>G | ||
| NM_001190906.1:c.313A>G | NP_001177835.1:p.Thr105Ala | |
| NM_001190907.1:c.313A>G | NP_001177836.1:p.Thr105Ala | |
| NM_005989.3:c.313A>G | NP_005980.1:p.Thr105Ala | |
| NM_005989.4:c.313A>G MANE Select | NP_005980.1:p.Thr105Ala | |
| NM_001190906.2:c.313A>G | NP_001177835.1:p.Thr105Ala | |
| NM_001190907.2:c.313A>G | NP_001177836.1:p.Thr105Ala |