Linked Data
dbSNP Id:
rs10889160
gnomAD v2:
1-60362121-T-C
gnomAD v3:
1-59896449-T-C
gnomAD v4:
1-59896449-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.59896449T>C , CM000663.2:g.59896449T>C | GRCh38 |
| NC_000001.10:g.60362121T>C , CM000663.1:g.60362121T>C | GRCh37 |
| NC_000001.9:g.60134709T>C | NCBI36 |
| NG_007931.1:g.35303A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371204.4:c.1331-2620A>G MANE Select | ENSP00000360247.3:n.1331-2620A>G | |
| ENST00000468257.2:c.*273-2620A>G | ENSP00000497807.1:n.*273-2620A>G | |
| ENST00000469406.6:c.*1243-2620A>G | ENSP00000497732.1:n.*1243-2620A>G | |
| ENST00000371204.3:c.1331-2620A>G | ENSP00000360247.3:n.1331-2620A>G | |
| ENST00000466095.5:n.1158-2620A>G | ||
| ENST00000469406.5:n.1497-2620A>G | ||
| ENST00000492633.5:n.2036-2620A>G | ||
| NM_000775.2:c.1331-2620A>G | NP_000766.2:n.1331-2620A>G | |
| XR_246240.2:n.1170-2620A>G | ||
| XR_946558.1:n.1509-2620A>G | ||
| NM_000775.3:c.1331-2620A>G | NP_000766.2:n.1331-2620A>G | |
| NR_134981.1:n.1195-2620A>G | ||
| NR_134982.1:n.1534-2620A>G | ||
| NM_000775.4:c.1331-2620A>G MANE Select | NP_000766.2:n.1331-2620A>G | |
| NR_134981.2:n.1170-2620A>G | ||
| NR_134982.2:n.1509-2620A>G |