Linked Data
dbSNP Id:
rs1332251722
gnomAD v2:
19-51363235-C-A
gnomAD v3:
19-50859979-C-A
gnomAD v4:
19-50859979-C-A
MyVariant Identifiers:
chr19:g.51363235C>A (hg19)
chr19:g.51363235_51363236delinsAT (hg19)
chr19:g.50859979C>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.50859979C>A , CM000681.2:g.50859979C>A | GRCh38 |
| NC_000019.9:g.51363235C>A , CM000681.1:g.51363235C>A | GRCh37 |
| NC_000019.8:g.56055047C>A | NCBI36 |
| NG_011653.1:g.10065C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326003.7:c.638C>A MANE Select | ENSP00000314151.1:p.Ser213Tyr | |
| ENST00000326003.6:c.638C>A | ENSP00000314151.1:p.Ser213Tyr | |
| ENST00000360617.7:c.1080C>A | ENSP00000353829.2:n.1080C>A | |
| ENST00000422986.6:c.*294C>A | ENSP00000393628.2:n.*294C>A | |
| ENST00000595392.5:c.*139C>A | ENSP00000468912.1:n.*139C>A | |
| ENST00000595952.5:c.509C>A | ENSP00000471155.1:p.Ser170Tyr | |
| ENST00000596185.5:c.*746C>A | ENSP00000471648.1:n.*746C>A | |
| ENST00000596333.1:n.816C>A | ||
| ENST00000598145.1:c.640C>A | ||
| ENST00000601349.5:n.1917C>A | ||
| ENST00000601812.1:n.1070C>A | ||
| ENST00000617027.4:c.515C>A | ENSP00000483513.1:p.Ser172Tyr | |
| NM_001030047.1:c.*363C>A | NP_001025218.1:n.*363C>A | |
| NM_001030048.1:c.509C>A | NP_001025219.1:p.Ser170Tyr | |
| NM_001648.2:c.638C>A MANE Select | NP_001639.1:p.Ser213Tyr | |
| XM_011526923.1:c.656C>A | XP_011525225.1:p.Ser219Tyr | |
| XM_011526924.1:c.*363C>A | XP_011525226.1:n.*363C>A | |
| XR_935817.1:n.1324+725C>A |