Linked Data
dbSNP Id:
rs17645523
gnomAD v2:
15-50882645-T-C
gnomAD v3:
15-50590448-T-C
gnomAD v4:
15-50590448-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.50590448T>C , CM000677.2:g.50590448T>C | GRCh38 |
| NC_000015.9:g.50882645T>C , CM000677.1:g.50882645T>C | GRCh37 |
| NC_000015.8:g.48669937T>C | NCBI36 |
| NG_021363.1:g.101368A>G | |
| NG_021363.2:g.101368A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000645282.1:n.129-792A>G | ||
| ENST00000646667.1:c.4325-792A>G MANE Select | ENSP00000495860.1:n.4325-792A>G | |
| ENST00000313478.11:c.4325-792A>G | ENSP00000320239.7:n.4325-792A>G | |
| ENST00000560955.5:c.4325-792A>G | ENSP00000453277.1:n.4325-792A>G | |
| NM_001301212.1:c.4325-792A>G | NP_001288141.1:n.4325-792A>G | |
| NM_017672.5:c.4325-792A>G | NP_060142.3:n.4325-792A>G | |
| XM_005254486.2:c.4325-792A>G | XP_005254543.1:n.4325-792A>G | |
| XM_005254487.2:c.4325-792A>G | XP_005254544.1:n.4325-792A>G | |
| XR_931853.1:n.4607-792A>G | ||
| NR_149152.1:n.4557-792A>G | ||
| NR_149153.1:n.4480-792A>G | ||
| NR_149154.1:n.4407-792A>G | ||
| XM_005254486.4:c.4325-792A>G | XP_005254543.1:n.4325-792A>G | |
| XM_017022350.1:c.4352-792A>G | XP_016877839.1:n.4352-792A>G | |
| XM_017022351.1:c.4352-792A>G | XP_016877840.1:n.4352-792A>G | |
| XM_017022352.1:c.4352-792A>G | XP_016877841.1:n.4352-792A>G | |
| XM_017022353.2:c.4352-792A>G | XP_016877842.1:n.4352-792A>G | |
| XM_017022354.1:c.4148-792A>G | XP_016877843.1:n.4148-792A>G | |
| XM_017022355.1:c.4148-792A>G | XP_016877844.1:n.4148-792A>G | |
| XR_001751325.1:n.4367-792A>G | ||
| XR_001751326.2:n.4367-792A>G | ||
| XR_001751327.1:n.4367-792A>G | ||
| XR_001751328.2:n.4367-792A>G | ||
| XR_002957653.1:n.5230-792A>G | ||
| XR_002957654.1:n.4317-792A>G | ||
| NM_017672.6:c.4325-792A>G MANE Select | NP_060142.3:n.4325-792A>G | |
| NM_001301212.2:c.4325-792A>G | NP_001288141.1:n.4325-792A>G | |
| NR_149152.2:n.4539-792A>G | ||
| NR_149153.2:n.4462-792A>G | ||
| NR_149154.2:n.4389-792A>G |