Linked Data
dbSNP Id:
rs1253811675
gnomAD v2:
19-7593906-G-A
gnomAD v3:
19-7529020-G-A
gnomAD v4:
19-7529020-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7529020G>A , CM000681.2:g.7529020G>A | GRCh38 |
| NC_000019.9:g.7593906G>A , CM000681.1:g.7593906G>A | GRCh37 |
| NC_000019.8:g.7499906G>A | NCBI36 |
| NG_015806.1:g.11411G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264079.11:c.1134+50G>A MANE Select | ENSP00000264079.5:n.1134+50G>A | |
| ENST00000264079.10:c.1134+50G>A | ENSP00000264079.5:n.1134+50G>A | |
| ENST00000394321.9:n.1449+50G>A | ||
| ENST00000594692.1:n.50G>A | ||
| ENST00000595860.5:n.317+50G>A | ||
| ENST00000599334.1:c.11+50G>A | ||
| NM_020533.2:c.1134+50G>A | NP_065394.1:n.1134+50G>A | |
| NM_020533.3:c.1134+50G>A MANE Select | NP_065394.1:n.1134+50G>A |