Linked Data
dbSNP Id:
rs567394199
gnomAD v2:
2-46557614-G-A
gnomAD v3:
2-46330475-G-A
gnomAD v4:
2-46330475-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.46330475G>A , CM000664.2:g.46330475G>A | GRCh38 |
| NC_000002.11:g.46557614G>A , CM000664.1:g.46557614G>A | GRCh37 |
| NC_000002.10:g.46411118G>A | NCBI36 |
| NG_016000.1:g.38074G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263734.5:c.27-16398G>A MANE Select | ENSP00000263734.3:n.27-16398G>A | |
| ENST00000263734.4:c.27-16398G>A | ENSP00000263734.3:n.27-16398G>A | |
| ENST00000449347.5:c.27-16398G>A | ENSP00000406137.1:n.27-16398G>A | |
| ENST00000460015.1:n.433-16398G>A | ||
| ENST00000467888.5:n.175-16398G>A | ||
| NM_001430.4:c.27-16398G>A | NP_001421.2:n.27-16398G>A | |
| XM_011532698.1:c.65+4599G>A | XP_011531000.1:n.65+4599G>A | |
| XR_940055.1:n.2355+5309C>T | ||
| XM_011532698.2:c.65+4599G>A | XP_011531000.1:n.65+4599G>A | |
| NM_001430.5:c.27-16398G>A MANE Select | NP_001421.2:n.27-16398G>A |