Linked Data
ClinVar Variation Id:
2161455
ClinVar RCV Id:
RCV003078579
dbSNP Id:
rs1368351754
gnomAD v2:
19-12776359-G-A
gnomAD v4:
19-12665545-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12665545G>A , CM000681.2:g.12665545G>A | GRCh38 |
| NC_000019.9:g.12776359G>A , CM000681.1:g.12776359G>A | GRCh37 |
| NC_000019.8:g.12637359G>A | NCBI36 |
| NG_008318.1:g.6233C>T | |
| NG_015814.1:g.3742G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456935.7:c.263-20C>T MANE Select | ENSP00000395473.2:n.263-20C>T | |
| ENST00000221363.8:c.263-20C>T | ENSP00000221363.4:n.263-20C>T | |
| ENST00000456935.6:c.263-20C>T | ENSP00000395473.2:n.263-20C>T | |
| ENST00000466794.5:n.245-20C>T | ||
| ENST00000486847.2:c.160-20C>T | ENSP00000470174.1:n.160-20C>T | |
| ENST00000596512.5:n.201-20C>T | ||
| ENST00000597961.1:c.254-20C>T | ENSP00000472710.1:n.254-20C>T | |
| ENST00000598876.1:c.290-20C>T | ENSP00000470533.1:n.290-20C>T | |
| ENST00000600281.1:n.304-20C>T | ||
| NM_000528.3:c.263-20C>T | NP_000519.2:n.263-20C>T | |
| NM_001173498.1:c.263-20C>T | NP_001166969.1:n.263-20C>T | |
| XM_005259913.1:c.263-20C>T | XP_005259970.1:n.263-20C>T | |
| XM_005259913.2:c.263-20C>T | XP_005259970.1:n.263-20C>T | |
| XM_024451518.1:c.-756-20C>T | XP_024307286.1:n.-756-20C>T | |
| NM_000528.4:c.263-20C>T MANE Select | NP_000519.2:n.263-20C>T | |
| NM_001173498.2:c.263-20C>T | NP_001166969.1:n.263-20C>T |