Linked Data
dbSNP Id:
rs1221830936
gnomAD v2:
10-96701504-G-A
gnomAD v3:
10-94941747-G-A
gnomAD v4:
10-94941747-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94941747G>A , CM000672.2:g.94941747G>A | GRCh38 |
| NC_000010.10:g.96701504G>A , CM000672.1:g.96701504G>A | GRCh37 |
| NC_000010.9:g.96691494G>A | NCBI36 |
| NG_008385.1:g.8090G>A | |
| NG_008385.2:g.8590G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.169-111G>A MANE Select | ENSP00000260682.6:n.169-111G>A | |
| ENST00000643112.1:c.169-111G>A | ENSP00000496202.1:n.169-111G>A | |
| ENST00000645207.1:n.211G>A | ||
| ENST00000260682.6:c.169-111G>A | ENSP00000260682.6:n.169-111G>A | |
| ENST00000461906.1:n.194-111G>A | ||
| NM_000771.3:c.169-111G>A | NP_000762.2:n.169-111G>A | |
| NM_000771.4:c.169-111G>A MANE Select | NP_000762.2:n.169-111G>A |