Linked Data
ClinVar Variation Id:
296830
ClinVar RCV Id:
RCV000386681
dbSNP Id:
rs144723215
ExAC:
1:24123427 C / T
gnomAD v2:
1-24123427-C-T
gnomAD v3:
1-23796937-C-T
gnomAD v4:
1-23796937-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23796937C>T , CM000663.2:g.23796937C>T | GRCh38 |
| NC_000001.10:g.24123427C>T , CM000663.1:g.24123427C>T | GRCh37 |
| NC_000001.9:g.23996014C>T | NCBI36 |
| NG_007068.1:g.8868G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617979.5:c.648G>A MANE Select | ENSP00000483375.1:p.Ala216= | |
| ENST00000374497.7:c.648G>A | ENSP00000363621.3:p.Ala216= | |
| ENST00000418277.5:c.456G>A | ENSP00000414719.1:p.Ala152= | |
| ENST00000429356.5:c.456G>A | ENSP00000398585.1:p.Ala152= | |
| ENST00000456977.5:c.6G>A | ENSP00000397045.1:p.Ala2= | |
| ENST00000459934.5:n.766G>A | ||
| ENST00000469556.1:n.42G>A | ||
| ENST00000481736.5:n.1052G>A | ||
| ENST00000617979.4:c.648G>A | ENSP00000483375.1:p.Ala216= | |
| NM_000403.3:c.648G>A | NP_000394.2:p.Ala216= | |
| NM_001008216.1:c.648G>A | NP_001008217.1:p.Ala216= | |
| NM_001127621.1:c.648G>A | NP_001121093.1:p.Ala216= | |
| NM_001008216.2:c.648G>A MANE Select | NP_001008217.1:p.Ala216= | |
| NM_000403.4:c.648G>A | NP_000394.2:p.Ala216= | |
| NM_001127621.2:c.648G>A | NP_001121093.1:p.Ala216= |