Linked Data
dbSNP Id:
rs556454796
ExAC:
2:71351286 T / G
gnomAD v2:
2-71351286-T-G
gnomAD v3:
2-71124156-T-G
gnomAD v4:
2-71124156-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71124156T>G , CM000664.2:g.71124156T>G | GRCh38 |
| NC_000002.11:g.71351286T>G , CM000664.1:g.71351286T>G | GRCh37 |
| NC_000002.10:g.71204794T>G | NCBI36 |
| NG_008977.1:g.11109A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244217.6:c.378+50A>C MANE Select | ENSP00000244217.5:n.378+50A>C | |
| ENST00000244217.5:c.378+50A>C | ENSP00000244217.5:n.378+50A>C | |
| ENST00000413592.5:c.84+212A>C | ENSP00000391140.1:n.84+212A>C | |
| NM_032601.3:c.378+50A>C | NP_115990.3:n.378+50A>C | |
| XM_005264613.2:c.216+212A>C | XP_005264670.1:n.216+212A>C | |
| XR_939729.1:n.447+50A>C | ||
| XR_939729.2:n.447+50A>C | ||
| NM_032601.4:c.378+50A>C MANE Select | NP_115990.3:n.378+50A>C |