Linked Data
dbSNP Id:
rs747326431
ExAC:
19:12776225 C / T
gnomAD v2:
19-12776225-C-T
gnomAD v4:
19-12665411-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12665411C>T , CM000681.2:g.12665411C>T | GRCh38 |
| NC_000019.9:g.12776225C>T , CM000681.1:g.12776225C>T | GRCh37 |
| NC_000019.8:g.12637225C>T | NCBI36 |
| NG_008318.1:g.6367G>A | |
| NG_015814.1:g.3608C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456935.7:c.377G>A MANE Select | ENSP00000395473.2:p.Arg126His | |
| ENST00000221363.8:c.377G>A | ENSP00000221363.4:p.Arg126His | |
| ENST00000456935.6:c.377G>A | ENSP00000395473.2:p.Arg126His | |
| ENST00000466794.5:n.359G>A | ||
| ENST00000486847.2:c.274G>A | ENSP00000470174.1:p.Val92Ile | |
| ENST00000596512.5:n.315G>A | ||
| ENST00000597961.1:c.368G>A | ENSP00000472710.1:p.Arg123His | |
| ENST00000598876.1:c.404G>A | ENSP00000470533.1:p.Arg135His | |
| ENST00000600281.1:n.418G>A | ||
| NM_000528.3:c.377G>A | NP_000519.2:p.Arg126His | |
| NM_001173498.1:c.377G>A | NP_001166969.1:p.Arg126His | |
| XM_005259913.1:c.377G>A | XP_005259970.1:p.Arg126His | |
| XM_005259913.2:c.377G>A | XP_005259970.1:p.Arg126His | |
| XM_024451518.1:c.-642G>A | XP_024307286.1:n.-642G>A | |
| NM_000528.4:c.377G>A MANE Select | NP_000519.2:p.Arg126His | |
| NM_001173498.2:c.377G>A | NP_001166969.1:p.Arg126His |