Linked Data
dbSNP Id:
rs1005224
gnomAD v2:
14-76173860-T-A
gnomAD v3:
14-75707517-T-A
gnomAD v4:
14-75707517-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75707517T>A , CM000676.2:g.75707517T>A | GRCh38 |
| NC_000014.8:g.76173860T>A , CM000676.1:g.76173860T>A | GRCh37 |
| NC_000014.7:g.75243613T>A | NCBI36 |
| NG_016974.1:g.51310T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000298832.14:c.656-106T>A MANE Select | ENSP00000298832.9:n.656-106T>A | |
| ENST00000286650.9:c.656-106T>A | ENSP00000286650.5:n.656-106T>A | |
| ENST00000298832.13:c.656-106T>A | ENSP00000298832.9:n.656-106T>A | |
| ENST00000555422.5:n.125-106T>A | ||
| ENST00000556173.5:n.582-106T>A | ||
| ENST00000557636.5:c.656-106T>A | ENSP00000450713.1:n.656-106T>A | |
| NM_015072.4:c.656-106T>A | NP_055887.3:n.656-106T>A | |
| NM_015072.5:c.656-106T>A MANE Select | NP_055887.3:n.656-106T>A |