Linked Data
dbSNP Id:
rs2025805
gnomAD v2:
1-65949878-G-A
gnomAD v3:
1-65484195-G-A
gnomAD v4:
1-65484195-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.65484195G>A , CM000663.2:g.65484195G>A | GRCh38 |
| NC_000001.10:g.65949878G>A , CM000663.1:g.65949878G>A | GRCh37 |
| NC_000001.9:g.65722466G>A | NCBI36 |
| NG_015831.2:g.68631G>A , LRG_283:g.68631G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000349533.11:c.-21+58817G>A MANE Select | ENSP00000330393.7:n.-21+58817G>A | |
| ENST00000349533.10:c.-21+58817G>A | ENSP00000330393.6:n.-21+58817G>A | |
| ENST00000371059.7:c.-21+58817G>A | ENSP00000360098.3:n.-21+58817G>A | |
| ENST00000371060.7:c.-21+58817G>A | ENSP00000360099.3:n.-21+58817G>A | |
| ENST00000406510.7:c.-641+58817G>A | ENSP00000384025.3:n.-641+58817G>A | |
| NM_001003679.3:c.-21+58817G>A , LRG_283t1:c.-21+58817G>A | NP_001003679.1:n.-21+58817G>A | |
| NM_001003680.3:c.-21+58817G>A , LRG_283t2:c.-21+58817G>A | NP_001003680.1:n.-21+58817G>A | |
| NM_002303.5:c.-21+58817G>A , LRG_283t3:c.-21+58817G>A | NP_002294.2:n.-21+58817G>A | |
| NM_002303.6:c.-21+58817G>A MANE Select | NP_002294.2:n.-21+58817G>A |