Linked Data
dbSNP Id:
rs1253074102
gnomAD v2:
12-109994959-G-C
gnomAD v3:
12-109557154-G-C
gnomAD v4:
12-109557154-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109557154G>C , CM000674.2:g.109557154G>C | GRCh38 |
| NC_000012.11:g.109994959G>C , CM000674.1:g.109994959G>C | GRCh37 |
| NC_000012.10:g.108479342G>C | NCBI36 |
| NG_007096.1:g.21344C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545712.7:c.645-18C>G MANE Select | ENSP00000445920.1:n.645-18C>G | |
| ENST00000537496.5:c.*210-18C>G | ENSP00000444793.1:n.*210-18C>G | |
| ENST00000540016.5:c.489-18C>G | ENSP00000474582.1:n.489-18C>G | |
| ENST00000541763.6:c.870-18C>G | ENSP00000474981.1:n.870-18C>G | |
| ENST00000544051.5:c.*526-18C>G | ENSP00000438079.1:n.*526-18C>G | |
| ENST00000545712.6:c.645-18C>G | ENSP00000445920.1:n.645-18C>G | |
| NM_052845.3:c.645-18C>G | NP_443077.1:n.645-18C>G | |
| NR_038118.1:n.805-18C>G | ||
| XM_011538266.1:c.490-18C>G | XP_011536568.1:n.490-18C>G | |
| XM_011538267.1:c.490-18C>G | XP_011536569.1:n.490-18C>G | |
| XM_011538268.1:c.372-18C>G | XP_011536570.1:n.372-18C>G | |
| XM_011538269.1:c.369-18C>G | XP_011536571.1:n.369-18C>G | |
| XM_011538267.3:c.490-18C>G | XP_011536569.1:n.490-18C>G | |
| XM_011538268.2:c.372-18C>G | XP_011536570.1:n.372-18C>G | |
| XM_011538269.2:c.369-18C>G | XP_011536571.1:n.369-18C>G | |
| NM_052845.4:c.645-18C>G MANE Select | NP_443077.1:n.645-18C>G | |
| NR_038118.2:n.756-18C>G |