Linked Data
dbSNP Id:
rs1160698341
gnomAD v2:
11-6340791-C-T
gnomAD v3:
11-6319561-C-T
gnomAD v4:
11-6319561-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6319561C>T , CM000673.2:g.6319561C>T | GRCh38 |
| NC_000011.9:g.6340791C>T , CM000673.1:g.6340791C>T | GRCh37 |
| NC_000011.8:g.6297367C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303927.4:c.388G>A MANE Select | ENSP00000307292.3:p.Glu130Lys | |
| ENST00000303927.3:c.388G>A | ENSP00000307292.3:p.Glu130Lys | |
| ENST00000524852.1:n.174G>A | ||
| ENST00000530979.1:c.484G>A | ENSP00000432047.1:p.Glu162Lys | |
| ENST00000532354.1:n.410G>A | ||
| NM_145040.2:c.388G>A | NP_659477.2:p.Glu130Lys | |
| XR_930997.1:n.720+1341C>T | ||
| XR_001748105.2:n.19C>T | ||
| XR_001748106.1:n.172C>T | ||
| XR_001748108.2:n.19C>T | ||
| XR_001748109.2:n.28C>T | ||
| XR_242848.4:n.421C>T | ||
| XR_930992.3:n.19C>T | ||
| XR_930994.3:n.19C>T | ||
| XR_930995.3:n.19C>T | ||
| XR_930998.3:n.19C>T | ||
| NM_145040.3:c.388G>A MANE Select | NP_659477.2:p.Glu130Lys |