Linked Data
dbSNP Id:
rs769724092
ExAC:
19:12776238 C / T
gnomAD v2:
19-12776238-C-T
gnomAD v4:
19-12665424-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12665424C>T , CM000681.2:g.12665424C>T | GRCh38 |
| NC_000019.9:g.12776238C>T , CM000681.1:g.12776238C>T | GRCh37 |
| NC_000019.8:g.12637238C>T | NCBI36 |
| NG_008318.1:g.6354G>A | |
| NG_015814.1:g.3621C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456935.7:c.364G>A MANE Select | ENSP00000395473.2:p.Ala122Thr | |
| ENST00000221363.8:c.364G>A | ENSP00000221363.4:p.Ala122Thr | |
| ENST00000456935.6:c.364G>A | ENSP00000395473.2:p.Ala122Thr | |
| ENST00000466794.5:n.346G>A | ||
| ENST00000486847.2:c.261G>A | ENSP00000470174.1:p.Leu87= | |
| ENST00000596512.5:n.302G>A | ||
| ENST00000597961.1:c.355G>A | ENSP00000472710.1:p.Ala119Thr | |
| ENST00000598876.1:c.391G>A | ENSP00000470533.1:p.Ala131Thr | |
| ENST00000600281.1:n.405G>A | ||
| NM_000528.3:c.364G>A | NP_000519.2:p.Ala122Thr | |
| NM_001173498.1:c.364G>A | NP_001166969.1:p.Ala122Thr | |
| XM_005259913.1:c.364G>A | XP_005259970.1:p.Ala122Thr | |
| XM_005259913.2:c.364G>A | XP_005259970.1:p.Ala122Thr | |
| XM_024451518.1:c.-655G>A | XP_024307286.1:n.-655G>A | |
| NM_000528.4:c.364G>A MANE Select | NP_000519.2:p.Ala122Thr | |
| NM_001173498.2:c.364G>A | NP_001166969.1:p.Ala122Thr |