Linked Data
dbSNP Id:
rs1472194767
gnomAD v2:
1-27023277-G-C
gnomAD v3:
1-26696786-G-C
gnomAD v4:
1-26696786-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.26696786G>C , CM000663.2:g.26696786G>C | GRCh38 |
| NC_000001.10:g.27023277G>C , CM000663.1:g.27023277G>C | GRCh37 |
| NC_000001.9:g.26895864G>C | NCBI36 |
| NG_029965.1:g.5756G>C , LRG_875:g.5756G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324856.13:c.383G>C MANE Select | ENSP00000320485.7:p.Ser128Thr | |
| ENST00000430799.7:c.-13+3169G>C | ENSP00000390317.3:n.-13+3169G>C | |
| ENST00000637465.1:c.-13+686G>C | ENSP00000490650.1:n.-13+686G>C | |
| ENST00000324856.11:c.383G>C | ENSP00000320485.7:p.Ser128Thr | |
| ENST00000457599.6:c.383G>C | ENSP00000387636.2:p.Ser128Thr | |
| NM_006015.4:c.383G>C , LRG_875t1:c.383G>C | NP_006006.3:p.Ser128Thr | |
| NM_139135.2:c.383G>C | NP_624361.1:p.Ser128Thr | |
| NM_006015.5:c.383G>C | NP_006006.3:p.Ser128Thr | |
| NM_139135.3:c.383G>C | NP_624361.1:p.Ser128Thr | |
| NM_006015.6:c.383G>C MANE Select | NP_006006.3:p.Ser128Thr | |
| NM_139135.4:c.383G>C | NP_624361.1:p.Ser128Thr |