Linked Data
dbSNP Id:
rs1397331005
gnomAD v2:
3-46750659-C-G
gnomAD v3:
3-46709169-C-G
gnomAD v4:
3-46709169-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.46709169C>G , CM000665.2:g.46709169C>G | GRCh38 |
| NC_000003.11:g.46750659C>G , CM000665.1:g.46750659C>G | GRCh37 |
| NC_000003.10:g.46725663C>G | NCBI36 |
| NG_011628.1:g.12837C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643606.3:c.255C>G MANE Select | ENSP00000494576.2:p.Thr85= | |
| ENST00000644830.1:c.96C>G | ENSP00000495111.1:p.Thr32= | |
| ENST00000651652.1:c.153C>G | ENSP00000498953.1:p.Thr51= | |
| ENST00000326431.3:c.255C>G | ENSP00000324775.3:p.Thr85= | |
| NM_147196.2:c.255C>G | NP_671729.2:p.Thr85= | |
| XM_006713097.2:c.96C>G | XP_006713160.1:p.Thr32= | |
| XM_011533574.1:c.96C>G | XP_011531876.1:p.Thr32= | |
| XM_006713097.4:c.96C>G | XP_006713160.1:p.Thr32= | |
| XM_024453446.1:c.96C>G | XP_024309214.1:p.Thr32= | |
| NM_001370524.1:c.96C>G | NP_001357453.1:p.Thr32= | |
| NM_001370525.1:c.96C>G | NP_001357454.1:p.Thr32= | |
| NM_147196.3:c.255C>G MANE Select | NP_671729.2:p.Thr85= |