Linked Data
dbSNP Id:
rs113002133
gnomAD v2:
12-57488286-T-G
gnomAD v3:
12-57094503-T-G
gnomAD v4:
12-57094503-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57094503T>G , CM000674.2:g.57094503T>G | GRCh38 |
| NC_000012.11:g.57488286T>G , CM000674.1:g.57488286T>G | GRCh37 |
| NC_000012.10:g.55774553T>G | NCBI36 |
| NG_021272.1:g.21911A>C | |
| NG_021272.2:g.42637A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300131.8:c.1469-109T>G MANE Select | ENSP00000300131.3:n.1469-109T>G | |
| ENST00000300131.7:c.1469-109T>G | ENSP00000300131.3:n.1469-109T>G | |
| ENST00000342556.6:c.1277-109T>G | ENSP00000341491.6:n.1277-109T>G | |
| NM_005967.3:c.1469-109T>G | NP_005958.1:n.1469-109T>G | |
| XM_005268894.2:c.1277-109T>G | XP_005268951.1:n.1277-109T>G | |
| NM_001330305.1:c.1277-109T>G | NP_001317234.1:n.1277-109T>G | |
| NM_005967.4:c.1469-109T>G MANE Select | NP_005958.1:n.1469-109T>G | |
| NM_001330305.2:c.1277-109T>G | NP_001317234.1:n.1277-109T>G |