Linked Data
ClinVar Variation Id:
2737592
ClinVar RCV Id:
RCV003497377
dbSNP Id:
rs560197458
ExAC:
19:13007003 A / G
gnomAD v2:
19-13007003-A-G
gnomAD v3:
19-12896189-A-G
gnomAD v4:
19-12896189-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12896189A>G , CM000681.2:g.12896189A>G | GRCh38 |
| NC_000019.9:g.13007003A>G , CM000681.1:g.13007003A>G | GRCh37 |
| NC_000019.8:g.12868003A>G | NCBI36 |
| NG_009292.1:g.10030A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222214.10:c.636-16A>G MANE Select | ENSP00000222214.4:n.636-16A>G | |
| ENST00000222214.9:c.636-16A>G | ENSP00000222214.4:n.636-16A>G | |
| ENST00000421816.6:n.614-16A>G | ||
| ENST00000585420.5:n.1001-51A>G | ||
| ENST00000590530.5:c.*76-16A>G | ENSP00000468452.1:n.*76-16A>G | |
| ENST00000591043.1:n.672-16A>G | ||
| ENST00000591470.5:c.636-16A>G | ENSP00000466845.1:n.636-16A>G | |
| NM_000159.3:c.636-16A>G | NP_000150.1:n.636-16A>G | |
| NM_013976.3:c.636-16A>G | NP_039663.1:n.636-16A>G | |
| NR_102316.1:n.799-16A>G | ||
| NR_102317.1:n.1052-51A>G | ||
| XM_006722721.2:c.636-16A>G | XP_006722784.1:n.636-16A>G | |
| XM_011527899.1:c.636-16A>G | XP_011526201.1:n.636-16A>G | |
| XM_011527900.1:c.636-16A>G | XP_011526202.1:n.636-16A>G | |
| XM_011527899.2:c.636-16A>G | XP_011526201.1:n.636-16A>G | |
| XM_011527900.2:c.636-16A>G | XP_011526202.1:n.636-16A>G | |
| XM_017026580.1:c.636-16A>G | XP_016882069.1:n.636-16A>G | |
| NM_000159.4:c.636-16A>G MANE Select | NP_000150.1:n.636-16A>G | |
| NM_013976.4:c.636-16A>G | NP_039663.1:n.636-16A>G | |
| NM_013976.5:c.636-16A>G | NP_039663.1:n.636-16A>G |