Linked Data
dbSNP Id:
rs2677879
ExAC:
18:2547500 G / T
gnomAD v2:
18-2547500-G-T
gnomAD v3:
18-2547501-G-T
gnomAD v4:
18-2547501-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.2547501G>T , CM000680.2:g.2547501G>T | GRCh38 |
| NC_000018.9:g.2547500G>T , CM000680.1:g.2547500G>T | GRCh37 |
| NC_000018.8:g.2537500G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000574538.2:c.928C>A MANE Select | ENSP00000458290.1:p.Gln310Lys | |
| ENST00000319888.10:c.928C>A | ENSP00000320349.6:p.Gln310Lys | |
| ENST00000573134.1:n.3229C>A | ||
| ENST00000574538.1:c.928C>A | ENSP00000458290.1:p.Gln310Lys | |
| ENST00000576251.5:c.123C>A | ||
| NM_001308401.1:c.928C>A | NP_001295330.1:p.Gln310Lys | |
| NM_022840.3:c.928C>A | NP_073751.3:p.Gln310Lys | |
| NM_022840.4:c.928C>A | NP_073751.3:p.Gln310Lys | |
| XM_005258132.2:c.928C>A | XP_005258189.1:p.Gln310Lys | |
| XM_005258133.1:c.487C>A | XP_005258190.1:p.Gln163Lys | |
| XM_011525730.1:c.899+5194C>A | XP_011524032.1:n.899+5194C>A | |
| XR_243813.2:n.1451C>A | ||
| XM_005258132.4:c.928C>A | XP_005258189.1:p.Gln310Lys | |
| XM_005258133.3:c.487C>A | XP_005258190.1:p.Gln163Lys | |
| XM_011525730.3:c.899+5194C>A | XP_011524032.1:n.899+5194C>A | |
| XR_001753260.2:n.951C>A | ||
| XR_243813.4:n.1642C>A | ||
| NM_022840.5:c.928C>A MANE Select | NP_073751.3:p.Gln310Lys | |
| NM_001308401.2:c.928C>A | NP_001295330.1:p.Gln310Lys |