Linked Data
dbSNP Id:
rs760398898
ExAC:
3:46747286 A / G
gnomAD v2:
3-46747286-A-G
gnomAD v4:
3-46705796-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.46705796A>G , CM000665.2:g.46705796A>G | GRCh38 |
| NC_000003.11:g.46747286A>G , CM000665.1:g.46747286A>G | GRCh37 |
| NC_000003.10:g.46722290A>G | NCBI36 |
| NG_011628.1:g.9464A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643606.3:c.100A>G MANE Select | ENSP00000494576.2:p.Thr34Ala | |
| ENST00000644830.1:c.-60A>G | ENSP00000495111.1:n.-60A>G | |
| ENST00000326431.3:c.100A>G | ENSP00000324775.3:p.Thr34Ala | |
| NM_147196.2:c.100A>G | NP_671729.2:p.Thr34Ala | |
| XM_006713097.2:c.-60A>G | XP_006713160.1:n.-60A>G | |
| XM_011533574.1:c.-60A>G | XP_011531876.1:n.-60A>G | |
| XM_006713097.4:c.-60A>G | XP_006713160.1:n.-60A>G | |
| XM_024453446.1:c.-60A>G | XP_024309214.1:n.-60A>G | |
| NM_001370524.1:c.-60A>G | NP_001357453.1:n.-60A>G | |
| NM_001370525.1:c.-60A>G | NP_001357454.1:n.-60A>G | |
| NM_147196.3:c.100A>G MANE Select | NP_671729.2:p.Thr34Ala |