Linked Data
ClinVar Variation Id:
1557320
ClinVar RCV Id:
RCV002194878
dbSNP Id:
rs1970679799
gnomAD v3:
19-12896337-G-A
gnomAD v4:
19-12896337-G-A
MyVariant Identifiers:
chr19:g.13007151G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12896337G>A , CM000681.2:g.12896337G>A | GRCh38 |
| NC_000019.9:g.13007151G>A , CM000681.1:g.13007151G>A | GRCh37 |
| NC_000019.8:g.12868151G>A | NCBI36 |
| NG_009292.1:g.10178G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222214.10:c.768G>A MANE Select | ENSP00000222214.4:p.Leu256= | |
| ENST00000222214.9:c.768G>A | ENSP00000222214.4:p.Leu256= | |
| ENST00000421816.6:n.746G>A | ||
| ENST00000585420.5:n.1098G>A | ||
| ENST00000590530.5:c.*208G>A | ENSP00000468452.1:n.*208G>A | |
| ENST00000591043.1:n.804G>A | ||
| ENST00000591470.5:c.768G>A | ENSP00000466845.1:p.Leu256= | |
| NM_000159.3:c.768G>A | NP_000150.1:p.Leu256= | |
| NM_013976.3:c.768G>A | NP_039663.1:p.Leu256= | |
| NR_102316.1:n.931G>A | ||
| NR_102317.1:n.1149G>A | ||
| XM_006722721.2:c.768G>A | XP_006722784.1:p.Leu256= | |
| XM_011527899.1:c.768G>A | XP_011526201.1:p.Leu256= | |
| XM_011527900.1:c.768G>A | XP_011526202.1:p.Leu256= | |
| XM_011527899.2:c.768G>A | XP_011526201.1:p.Leu256= | |
| XM_011527900.2:c.768G>A | XP_011526202.1:p.Leu256= | |
| XM_017026580.1:c.768G>A | XP_016882069.1:p.Leu256= | |
| NM_000159.4:c.768G>A MANE Select | NP_000150.1:p.Leu256= | |
| NM_013976.4:c.768G>A | NP_039663.1:p.Leu256= | |
| NM_013976.5:c.768G>A | NP_039663.1:p.Leu256= |