Linked Data
dbSNP Id:
rs10874746
gnomAD v2:
1-93323971-T-C
gnomAD v3:
1-92858414-T-C
gnomAD v4:
1-92858414-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.92858414T>C , CM000663.2:g.92858414T>C | GRCh38 |
| NC_000001.10:g.93323971T>C , CM000663.1:g.93323971T>C | GRCh37 |
| NC_000001.9:g.93096559T>C | NCBI36 |
| NG_033051.1:g.108109A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370310.5:c.190-7459A>G MANE Select | ENSP00000359333.4:n.190-7459A>G | |
| ENST00000370310.4:c.190-7459A>G | ENSP00000359333.4:n.190-7459A>G | |
| ENST00000613047.4:c.115-7459A>G | ENSP00000482478.1:n.115-7459A>G | |
| ENST00000613902.4:c.55-7459A>G | ENSP00000484866.1:n.55-7459A>G | |
| ENST00000615519.4:c.190-7459A>G | ENSP00000483279.1:n.190-7459A>G | |
| ENST00000616709.4:c.190-7459A>G | ENSP00000482718.1:n.190-7459A>G | |
| NM_001006605.4:c.190-7459A>G | NP_001006606.2:n.190-7459A>G | |
| NM_001252269.1:c.55-7459A>G | NP_001239198.1:n.55-7459A>G | |
| NM_001252270.1:c.190-7459A>G | NP_001239199.1:n.190-7459A>G | |
| NM_001252271.1:c.115-7459A>G | NP_001239200.1:n.115-7459A>G | |
| NM_001252273.1:c.190-7459A>G | NP_001239202.1:n.190-7459A>G | |
| NM_001006605.5:c.190-7459A>G MANE Select | NP_001006606.2:n.190-7459A>G | |
| NM_001252269.2:c.55-7459A>G | NP_001239198.1:n.55-7459A>G | |
| NM_001252270.2:c.190-7459A>G | NP_001239199.1:n.190-7459A>G | |
| NM_001252271.2:c.115-7459A>G | NP_001239200.1:n.115-7459A>G | |
| NM_001252273.2:c.190-7459A>G | NP_001239202.1:n.190-7459A>G |