Linked Data
ClinVar Variation Id:
238657
dbSNP Id:
rs144711161
ExAC:
6:38867683 G / A
gnomAD v2:
6-38867683-G-A
gnomAD v3:
6-38899907-G-A
gnomAD v4:
6-38899907-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.38899907G>A , CM000668.2:g.38899907G>A | GRCh38 |
| NC_000006.11:g.38867683G>A , CM000668.1:g.38867683G>A | GRCh37 |
| NC_000006.10:g.38975661G>A | NCBI36 |
| NG_041805.1:g.189567G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000327475.11:c.9194+1G>A MANE Select | ENSP00000333363.7:n.9194+1G>A | |
| ENST00000327475.10:c.9194+1G>A | ENSP00000333363.7:n.9194+1G>A | |
| ENST00000359357.7:c.8543+1G>A | ENSP00000352312.3:n.8543+1G>A | |
| ENST00000449981.6:c.9194+1G>A | ENSP00000415331.2:n.9194+1G>A | |
| NM_001206927.1:c.9194+1G>A | NP_001193856.1:n.9194+1G>A | |
| XM_011514318.1:c.9131+1G>A | XP_011512620.1:n.9131+1G>A | |
| XM_011514319.1:c.9086+1G>A | XP_011512621.1:n.9086+1G>A | |
| XM_011514320.1:c.8957+1G>A | XP_011512622.1:n.8957+1G>A | |
| XM_011514321.1:c.8543+1G>A | XP_011512623.1:n.8543+1G>A | |
| XR_926078.1:n.9311+1G>A | ||
| NM_001371.3:c.8543+1G>A | NP_001362.2:n.8543+1G>A | |
| XM_011514318.2:c.9131+1G>A | XP_011512620.1:n.9131+1G>A | |
| XM_011514319.2:c.9086+1G>A | XP_011512621.1:n.9086+1G>A | |
| XM_011514320.2:c.8957+1G>A | XP_011512622.1:n.8957+1G>A | |
| XM_017010325.1:c.9194+1G>A | XP_016865814.1:n.9194+1G>A | |
| XM_017010326.1:c.9194+1G>A | XP_016865815.1:n.9194+1G>A | |
| XR_926078.2:n.9314+1G>A | ||
| NM_001206927.2:c.9194+1G>A MANE Select | NP_001193856.1:n.9194+1G>A | |
| NM_001371.4:c.8543+1G>A | NP_001362.2:n.8543+1G>A |