Linked Data
dbSNP Id:
rs762300861
ExAC:
19:12760012 T / A
gnomAD v2:
19-12760012-T-A
gnomAD v4:
19-12649198-T-A
MyVariant Identifiers:
chr19:g.12760012T>A (hg19)
chr19:g.12760012_12760013delinsAC (hg19)
chr19:g.12649198T>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12649198T>A , CM000681.2:g.12649198T>A | GRCh38 |
| NC_000019.9:g.12760012T>A , CM000681.1:g.12760012T>A | GRCh37 |
| NC_000019.8:g.12621012T>A | NCBI36 |
| NG_008318.1:g.22580A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456935.7:c.2374A>T MANE Select | ENSP00000395473.2:p.Thr792Ser | |
| ENST00000221363.8:c.2371A>T | ENSP00000221363.4:p.Thr791Ser | |
| ENST00000456935.6:c.2374A>T | ENSP00000395473.2:p.Thr792Ser | |
| ENST00000466794.5:n.2964A>T | ||
| NM_000528.3:c.2374A>T | NP_000519.2:p.Thr792Ser | |
| NM_001173498.1:c.2371A>T | NP_001166969.1:p.Thr791Ser | |
| XM_005259913.1:c.2377A>T | XP_005259970.1:p.Thr793Ser | |
| XM_011528017.1:c.1273A>T | XP_011526319.1:p.Thr425Ser | |
| XM_005259913.2:c.2377A>T | XP_005259970.1:p.Thr793Ser | |
| XM_024451518.1:c.1273A>T | XP_024307286.1:p.Thr425Ser | |
| NM_000528.4:c.2374A>T MANE Select | NP_000519.2:p.Thr792Ser | |
| NM_001173498.2:c.2371A>T | NP_001166969.1:p.Thr791Ser |