Linked Data
ClinVar Variation Id:
188921
dbSNP Id:
rs139851890
ExAC:
19:13004378 C / T
gnomAD v2:
19-13004378-C-T
gnomAD v3:
19-12893564-C-T
gnomAD v4:
19-12893564-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12893564C>T , CM000681.2:g.12893564C>T | GRCh38 |
| NC_000019.9:g.13004378C>T , CM000681.1:g.13004378C>T | GRCh37 |
| NC_000019.8:g.12865378C>T | NCBI36 |
| NG_009292.1:g.7405C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000222214.10:c.416C>T MANE Select | ENSP00000222214.4:p.Ser139Leu | |
| ENST00000222214.9:c.416C>T | ENSP00000222214.4:p.Ser139Leu | |
| ENST00000421816.6:n.394C>T | ||
| ENST00000585420.5:n.781C>T | ||
| ENST00000587832.5:n.473C>T | ||
| ENST00000588905.5:c.380C>T | ENSP00000465770.1:p.Ser127Leu | |
| ENST00000589039.5:c.353C>T | ENSP00000465618.1:p.Ser118Leu | |
| ENST00000590530.5:c.471C>T | ENSP00000468452.1:p.Val157= | |
| ENST00000590627.5:n.781C>T | ||
| ENST00000591043.1:n.452C>T | ||
| ENST00000591470.5:c.416C>T | ENSP00000466845.1:p.Ser139Leu | |
| NM_000159.3:c.416C>T | NP_000150.1:p.Ser139Leu | |
| NM_013976.3:c.416C>T | NP_039663.1:p.Ser139Leu | |
| NR_102316.1:n.579C>T | ||
| NR_102317.1:n.832C>T | ||
| XM_006722721.2:c.416C>T | XP_006722784.1:p.Ser139Leu | |
| XM_011527899.1:c.416C>T | XP_011526201.1:p.Ser139Leu | |
| XM_011527900.1:c.416C>T | XP_011526202.1:p.Ser139Leu | |
| XM_011527899.2:c.416C>T | XP_011526201.1:p.Ser139Leu | |
| XM_011527900.2:c.416C>T | XP_011526202.1:p.Ser139Leu | |
| XM_017026580.1:c.416C>T | XP_016882069.1:p.Ser139Leu | |
| NM_000159.4:c.416C>T MANE Select | NP_000150.1:p.Ser139Leu | |
| NM_013976.4:c.416C>T | NP_039663.1:p.Ser139Leu | |
| NM_013976.5:c.416C>T | NP_039663.1:p.Ser139Leu |