Linked Data
dbSNP Id:
rs1804148
ExAC:
17:1675313 C / G
gnomAD v2:
17-1675313-C-G
gnomAD v4:
17-1772019-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1772019C>G , CM000679.2:g.1772019C>G | GRCh38 |
| NC_000017.10:g.1675313C>G , CM000679.1:g.1675313C>G | GRCh37 |
| NC_000017.9:g.1622063C>G | NCBI36 |
| NG_028180.1:g.15055C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254722.9:c.587C>G MANE Select | ENSP00000254722.4:p.Thr196Arg | |
| ENST00000254722.8:c.587C>G | ENSP00000254722.4:p.Thr196Arg | |
| ENST00000570820.1:n.807C>G | ||
| ENST00000572048.1:c.26C>G | ENSP00000458484.1:p.Thr9Arg | |
| ENST00000573763.1:c.-15C>G | ENSP00000461405.1:n.-15C>G | |
| ENST00000576406.5:c.26C>G | ENSP00000461214.1:p.Thr9Arg | |
| NM_002615.5:c.587C>G | NP_002606.3:p.Thr196Arg | |
| NM_001329903.1:c.587C>G | NP_001316832.1:p.Thr196Arg | |
| NM_001329904.1:c.26C>G | NP_001316833.1:p.Thr9Arg | |
| NM_001329905.1:c.26C>G | NP_001316834.1:p.Thr9Arg | |
| NM_002615.6:c.587C>G | NP_002606.3:p.Thr196Arg | |
| NM_002615.7:c.587C>G MANE Select | NP_002606.3:p.Thr196Arg | |
| NM_001329903.2:c.587C>G | NP_001316832.1:p.Thr196Arg | |
| NM_001329904.2:c.26C>G | NP_001316833.1:p.Thr9Arg | |
| NM_001329905.2:c.26C>G | NP_001316834.1:p.Thr9Arg |