Linked Data
dbSNP Id:
rs1147098
gnomAD v2:
12-65015244-G-A
gnomAD v3:
12-64621464-G-A
gnomAD v4:
12-64621464-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.64621464G>A , CM000674.2:g.64621464G>A | GRCh38 |
| NC_000012.11:g.65015244G>A , CM000674.1:g.65015244G>A | GRCh37 |
| NC_000012.10:g.63301511G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000542104.6:c.111+10721G>A MANE Select | ENSP00000443021.1:n.111+10721G>A | |
| ENST00000637125.1:c.295-63323G>A | ENSP00000490100.1:n.295-63323G>A | |
| ENST00000283172.8:c.111+10721G>A | ENSP00000283172.4:n.111+10721G>A | |
| ENST00000336061.2:c.111+10721G>A | ENSP00000336616.2:n.111+10721G>A | |
| ENST00000542104.5:c.111+10721G>A | ENSP00000443021.1:n.111+10721G>A | |
| NM_178169.3:c.111+10721G>A | NP_835463.1:n.111+10721G>A | |
| NR_040718.1:n.231+10721G>A | ||
| XM_011538195.1:c.75+10543G>A | XP_011536497.1:n.75+10543G>A | |
| XM_011538195.2:c.75+10543G>A | XP_011536497.1:n.75+10543G>A | |
| NM_178169.4:c.111+10721G>A MANE Select | NP_835463.1:n.111+10721G>A | |
| NR_040718.2:n.249+10721G>A |