Linked Data
dbSNP Id:
rs1876982147
gnomAD v4:
12-120994347-G-A
MyVariant Identifiers:
chr12:g.121432150G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120994347G>A , CM000674.2:g.120994347G>A | GRCh38 |
| NC_000012.11:g.121432150G>A , CM000674.1:g.121432150G>A | GRCh37 |
| NC_000012.10:g.119916533G>A | NCBI36 |
| NG_011731.2:g.20602G>A , LRG_522:g.20602G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000560968.6:c.750+147G>A | ENSP00000453965.2:n.750+147G>A | |
| ENST00000257555.11:c.897G>A MANE Select | ENSP00000257555.5:p.Leu299= | |
| ENST00000257555.10:c.897G>A | ENSP00000257555.4:p.Leu299= | |
| ENST00000400024.6:c.897G>A | ENSP00000476181.1:p.Leu299= | |
| ENST00000402929.5:n.1032G>A | ||
| ENST00000535955.5:n.43-3144G>A | ||
| ENST00000538626.2:n.191-3144G>A | ||
| ENST00000538646.5:c.710G>A | ENSP00000443964.1:p.Cys237Tyr | |
| ENST00000540108.1:c.*337G>A | ENSP00000445445.1:n.*337G>A | |
| ENST00000541395.5:c.897G>A | ENSP00000443112.1:p.Leu299= | |
| ENST00000541924.5:c.713+641G>A | ENSP00000440361.1:n.713+641G>A | |
| ENST00000543427.5:c.633+721G>A | ENSP00000439721.2:n.633+721G>A | |
| ENST00000544413.2:c.897G>A | ENSP00000438804.1:p.Leu299= | |
| ENST00000544574.5:c.73-2270G>A | ENSP00000438565.1:n.73-2270G>A | |
| ENST00000560968.5:c.893+147G>A | ||
| ENST00000615446.4:c.-257-1915G>A | ENSP00000483994.1:n.-257-1915G>A | |
| ENST00000617366.4:c.586+768G>A | ENSP00000481967.1:n.586+768G>A | |
| NM_000545.5:c.897G>A , LRG_522t1:c.897G>A | NP_000536.5:p.Leu299= | |
| NM_000545.6:c.897G>A | NP_000536.5:p.Leu299= | |
| NM_001306179.1:c.897G>A | NP_001293108.1:p.Leu299= | |
| XM_005253931.2:c.897G>A | XP_005253988.1:p.Leu299= | |
| XM_024449168.1:c.897G>A | XP_024304936.1:p.Leu299= | |
| NM_000545.8:c.897G>A MANE Select | NP_000536.6:p.Leu299= | |
| NM_001306179.2:c.897G>A | NP_001293108.2:p.Leu299= |