Linked Data
ClinVar Variation Id:
1278074
ClinVar RCV Id:
RCV001694815
dbSNP Id:
rs3094287
gnomAD v2:
19-49122248-T-C
gnomAD v3:
19-48618991-T-C
gnomAD v4:
19-48618991-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48618991T>C , CM000681.2:g.48618991T>C | GRCh38 |
| NC_000019.9:g.49122248T>C , CM000681.1:g.49122248T>C | GRCh37 |
| NC_000019.8:g.53814060T>C | NCBI36 |
| NG_029867.1:g.4701T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000549920.6:c.3+150A>G MANE Select | ENSP00000447001.1:n.3+150A>G | |
| ENST00000547892.1:n.185A>G | ||
| ENST00000547897.5:c.3+150A>G | ENSP00000470988.1:n.3+150A>G | |
| ENST00000549273.5:c.3+150A>G | ENSP00000449610.1:n.3+150A>G | |
| ENST00000549370.5:c.3+150A>G | ENSP00000449067.1:n.3+150A>G | |
| ENST00000549920.5:c.3+150A>G | ENSP00000447001.1:n.3+150A>G | |
| ENST00000550645.5:c.3+150A>G | ENSP00000448899.1:n.3+150A>G | |
| ENST00000550671.1:n.44+150A>G | ||
| ENST00000550973.5:c.-585A>G | ENSP00000447894.1:n.-585A>G | |
| ENST00000551749.5:n.43+150A>G | ||
| ENST00000552347.5:n.23+150A>G | ||
| ENST00000552588.5:c.3+150A>G | ENSP00000449204.1:n.3+150A>G | |
| ENST00000552705.5:n.43+150A>G | ||
| ENST00000552851.1:n.24+150A>G | ||
| NM_000979.3:c.3+150A>G | NP_000970.1:n.3+150A>G | |
| NM_001270490.1:c.3+150A>G | NP_001257419.1:n.3+150A>G | |
| NR_073022.1:n.278+150A>G | ||
| NM_000979.4:c.3+150A>G MANE Select | NP_000970.1:n.3+150A>G | |
| NM_001270490.2:c.3+150A>G | NP_001257419.1:n.3+150A>G | |
| NR_073022.2:n.38+150A>G |