Linked Data
dbSNP Id:
rs1488052465
gnomAD v2:
3-93592814-A-C
gnomAD v3:
3-93873970-A-C
gnomAD v4:
3-93873970-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.93873970A>C , CM000665.2:g.93873970A>C | GRCh38 |
| NC_000003.11:g.93592814A>C , CM000665.1:g.93592814A>C | GRCh37 |
| NC_000003.10:g.95075504A>C | NCBI36 |
| NG_009813.1:g.105121T>G , LRG_572:g.105121T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348974.5:c.*1+274T>G | ENSP00000330021.7:n.*1+274T>G | |
| ENST00000394236.9:c.*275T>G MANE Select | ENSP00000377783.3:n.*275T>G | |
| ENST00000407433.6:c.*275T>G | ENSP00000385794.2:n.*275T>G | |
| ENST00000647936.1:c.*409T>G | ENSP00000496822.1:n.*409T>G | |
| ENST00000648381.1:n.2474T>G | ||
| ENST00000648853.1:c.*275T>G | ENSP00000497262.1:n.*275T>G | |
| ENST00000650591.1:c.*275T>G | ENSP00000497376.1:n.*275T>G | |
| ENST00000394236.7:c.*275T>G | ENSP00000377783.3:n.*275T>G | |
| ENST00000407433.5:c.*275T>G | ENSP00000385794.1:n.*275T>G | |
| NM_000313.3:c.*275T>G , LRG_572t1:c.*275T>G | NP_000304.2:n.*275T>G | |
| NM_001314077.1:c.*275T>G , LRG_572t2:c.*275T>G | NP_001301006.1:n.*275T>G | |
| NM_000313.4:c.*275T>G MANE Select | NP_000304.2:n.*275T>G | |
| NM_001314077.2:c.*275T>G | NP_001301006.1:n.*275T>G |