Linked Data
ClinVar Variation Id:
2714859
ClinVar RCV Id:
RCV003513844
dbSNP Id:
rs1452140139
gnomAD v3:
16-30753392-A-G
gnomAD v4:
16-30753392-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.30753392A>G , CM000678.2:g.30753392A>G | GRCh38 |
| NC_000016.9:g.30764713A>G , CM000678.1:g.30764713A>G | GRCh37 |
| NC_000016.8:g.30672214A>G | NCBI36 |
| NG_016616.1:g.10094A>G | |
| NG_016616.2:g.10094A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000563588.6:c.393-2A>G MANE Select | ENSP00000455607.1:n.393-2A>G | |
| ENST00000328273.11:c.393-2A>G | ENSP00000329968.7:n.393-2A>G | |
| ENST00000424889.7:c.393-2A>G | ENSP00000388571.3:n.393-2A>G | |
| ENST00000561712.1:c.67-2A>G | ||
| ENST00000563588.5:c.393-2A>G | ENSP00000455607.1:n.393-2A>G | |
| ENST00000563607.1:c.*65-2A>G | ENSP00000454641.1:n.*65-2A>G | |
| ENST00000563913.5:n.726-2A>G | ||
| ENST00000564838.5:n.767-2A>G | ||
| ENST00000565897.5:c.393-2A>G | ENSP00000457359.1:n.393-2A>G | |
| ENST00000565924.5:c.393-2A>G | ENSP00000455091.1:n.393-2A>G | |
| ENST00000569684.1:n.805-2A>G | ||
| NM_000294.2:c.393-2A>G | NP_000285.1:n.393-2A>G | |
| NM_001172432.1:c.393-2A>G | NP_001165903.1:n.393-2A>G | |
| NM_000294.3:c.393-2A>G MANE Select | NP_000285.1:n.393-2A>G | |
| NM_001172432.2:c.393-2A>G | NP_001165903.1:n.393-2A>G |