Linked Data
dbSNP Id:
rs1348570317
gnomAD v2:
2-71351217-T-C
gnomAD v3:
2-71124087-T-C
gnomAD v4:
2-71124087-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71124087T>C , CM000664.2:g.71124087T>C | GRCh38 |
| NC_000002.11:g.71351217T>C , CM000664.1:g.71351217T>C | GRCh37 |
| NC_000002.10:g.71204725T>C | NCBI36 |
| NG_008977.1:g.11178A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244217.6:c.378+119A>G MANE Select | ENSP00000244217.5:n.378+119A>G | |
| ENST00000244217.5:c.378+119A>G | ENSP00000244217.5:n.378+119A>G | |
| ENST00000413592.5:c.84+281A>G | ENSP00000391140.1:n.84+281A>G | |
| NM_032601.3:c.378+119A>G | NP_115990.3:n.378+119A>G | |
| XM_005264613.2:c.216+281A>G | XP_005264670.1:n.216+281A>G | |
| XR_939729.1:n.447+119A>G | ||
| XR_939729.2:n.447+119A>G | ||
| NM_032601.4:c.378+119A>G MANE Select | NP_115990.3:n.378+119A>G |