Linked Data
dbSNP Id:
rs775068391
ExAC:
11:6340891 G / T
gnomAD v2:
11-6340891-G-T
gnomAD v3:
11-6319661-G-T
gnomAD v4:
11-6319661-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6319661G>T , CM000673.2:g.6319661G>T | GRCh38 |
| NC_000011.9:g.6340891G>T , CM000673.1:g.6340891G>T | GRCh37 |
| NC_000011.8:g.6297467G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303927.4:c.385-97C>A MANE Select | ENSP00000307292.3:n.385-97C>A | |
| ENST00000303927.3:c.385-97C>A | ENSP00000307292.3:n.385-97C>A | |
| ENST00000524852.1:n.74C>A | ||
| ENST00000530979.1:c.476C>A | ENSP00000432047.1:p.Ala159Glu | |
| ENST00000532354.1:n.402C>A | ||
| NM_145040.2:c.385-97C>A | NP_659477.2:n.385-97C>A | |
| XR_242848.3:n.100G>T | ||
| XR_242849.3:n.100G>T | ||
| XR_428874.2:n.100G>T | ||
| XR_930992.1:n.100G>T | ||
| XR_930994.1:n.100G>T | ||
| XR_930995.1:n.100G>T | ||
| XR_930996.1:n.100G>T | ||
| XR_930997.1:n.720+1441G>T | ||
| XR_930998.1:n.100G>T | ||
| XR_930999.1:n.100G>T | ||
| XR_001748105.2:n.119G>T | ||
| XR_001748106.1:n.272G>T | ||
| XR_001748108.2:n.119G>T | ||
| XR_001748109.2:n.128G>T | ||
| XR_242848.4:n.521G>T | ||
| XR_930992.3:n.119G>T | ||
| XR_930994.3:n.119G>T | ||
| XR_930995.3:n.119G>T | ||
| XR_930998.3:n.119G>T | ||
| NM_145040.3:c.385-97C>A MANE Select | NP_659477.2:n.385-97C>A |