Linked Data
dbSNP Id:
rs12468226
gnomAD v2:
2-203337001-A-G
gnomAD v3:
2-202472278-A-G
gnomAD v4:
2-202472278-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202472278A>G , CM000664.2:g.202472278A>G | GRCh38 |
| NC_000002.11:g.203337001A>G , CM000664.1:g.203337001A>G | GRCh37 |
| NC_000002.10:g.203045246A>G | NCBI36 |
| NG_009363.1:g.100952A>G , LRG_712:g.100952A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374580.10:c.418+4589A>G MANE Select | ENSP00000363708.4:n.418+4589A>G | |
| ENST00000638587.1:c.349+4589A>G | ENSP00000491062.1:n.349+4589A>G | |
| ENST00000374574.2:c.418+4589A>G | ENSP00000363702.2:n.418+4589A>G | |
| ENST00000374580.8:c.418+4589A>G | ENSP00000363708.4:n.418+4589A>G | |
| ENST00000479069.1:n.326-2430A>G | ||
| NM_001204.6:c.418+4589A>G , LRG_712t1:c.418+4589A>G | NP_001195.2:n.418+4589A>G | |
| XM_011511687.1:c.418+4589A>G | XP_011509989.1:n.418+4589A>G | |
| XM_011511688.1:c.418+4589A>G | XP_011509990.1:n.418+4589A>G | |
| NM_001204.7:c.418+4589A>G MANE Select | NP_001195.2:n.418+4589A>G |