Linked Data
dbSNP Id:
rs564600267
ExAC:
12:121434065 G / C
gnomAD v2:
12-121434065-G-C
gnomAD v3:
12-120996262-G-C
gnomAD v4:
12-120996262-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120996262G>C , CM000674.2:g.120996262G>C | GRCh38 |
| NC_000012.11:g.121434065G>C , CM000674.1:g.121434065G>C | GRCh37 |
| NC_000012.10:g.119918448G>C | NCBI36 |
| NG_011731.2:g.22517G>C , LRG_522:g.22517G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560968.6:c.751-121G>C | ENSP00000453965.2:n.751-121G>C | |
| ENST00000257555.11:c.956G>C MANE Select | ENSP00000257555.5:p.Gly319Ala | |
| ENST00000257555.10:c.956G>C | ENSP00000257555.4:p.Gly319Ala | |
| ENST00000400024.6:c.956G>C | ENSP00000476181.1:p.Gly319Ala | |
| ENST00000402929.5:n.1091G>C | ||
| ENST00000535955.5:n.43-1229G>C | ||
| ENST00000538626.2:n.191-1229G>C | ||
| ENST00000538646.5:c.769G>C | ENSP00000443964.1:p.Val257Leu | |
| ENST00000540108.1:c.*396G>C | ENSP00000445445.1:n.*396G>C | |
| ENST00000541395.5:c.956G>C | ENSP00000443112.1:p.Gly319Ala | |
| ENST00000541924.5:c.714G>C | ENSP00000440361.1:p.Arg238Ser | |
| ENST00000543427.5:c.634-342G>C | ENSP00000439721.2:n.634-342G>C | |
| ENST00000544413.2:c.956G>C | ENSP00000438804.1:p.Gly319Ala | |
| ENST00000544574.5:c.73-355G>C | ENSP00000438565.1:n.73-355G>C | |
| ENST00000560968.5:c.894-121G>C | ||
| ENST00000615446.4:c.-257G>C | ENSP00000483994.1:n.-257G>C | |
| ENST00000617366.4:c.587-1372G>C | ENSP00000481967.1:n.587-1372G>C | |
| NM_000545.5:c.956G>C , LRG_522t1:c.956G>C | NP_000536.5:p.Gly319Ala | |
| NM_000545.6:c.956G>C | NP_000536.5:p.Gly319Ala | |
| NM_001306179.1:c.956G>C | NP_001293108.1:p.Gly319Ala | |
| XM_005253931.2:c.956G>C | XP_005253988.1:p.Gly319Ala | |
| XM_024449168.1:c.956G>C | XP_024304936.1:p.Gly319Ala | |
| NM_000545.8:c.956G>C MANE Select | NP_000536.6:p.Gly319Ala | |
| NM_001306179.2:c.956G>C | NP_001293108.2:p.Gly319Ala |