Linked Data
dbSNP Id:
rs10902158
gnomAD v2:
11-396308-G-A
gnomAD v3:
11-396308-G-A
gnomAD v4:
11-396308-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.396308G>A , CM000673.2:g.396308G>A | GRCh38 |
| NC_000011.9:g.396308G>A , CM000673.1:g.396308G>A | GRCh37 |
| NC_000011.8:g.386308G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000331563.7:c.233-300G>A MANE Select | ENSP00000331678.2:n.233-300G>A | |
| ENST00000331563.6:c.233-300G>A | ENSP00000331678.2:n.233-300G>A | |
| ENST00000527442.5:c.-236-300G>A | ENSP00000435522.1:n.-236-300G>A | |
| ENST00000528036.5:c.-236-300G>A | ENSP00000434110.1:n.-236-300G>A | |
| ENST00000530695.1:n.158G>A | ||
| ENST00000531857.1:c.59-300G>A | ENSP00000435478.1:n.59-300G>A | |
| ENST00000533069.1:n.283-300G>A | ||
| ENST00000533249.5:c.-236-300G>A | ENSP00000435383.1:n.-236-300G>A | |
| ENST00000534401.5:c.278-300G>A | ENSP00000434517.2:n.278-300G>A | |
| NM_001303029.1:c.278-300G>A | NP_001289958.1:n.278-300G>A | |
| NM_007183.3:c.233-300G>A | NP_009114.1:n.233-300G>A | |
| NM_007183.4:c.233-300G>A MANE Select | NP_009114.1:n.233-300G>A | |
| NM_001303029.2:c.278-300G>A | NP_001289958.1:n.278-300G>A |