Linked Data
dbSNP Id:
rs782637593
ExAC:
14:105995969 G / C
gnomAD v2:
14-105995969-G-C
gnomAD v3:
14-105529632-G-C
gnomAD v4:
14-105529632-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.105529632G>C , CM000676.2:g.105529632G>C | GRCh38 |
| NC_000014.8:g.105995969G>C , CM000676.1:g.105995969G>C | GRCh37 |
| NC_000014.7:g.105067014G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392519.7:c.798G>C MANE Select | ENSP00000376304.2:p.Glu266Asp | |
| ENST00000392519.6:c.798G>C | ENSP00000376304.2:p.Glu266Asp | |
| ENST00000431372.1:c.798G>C | ENSP00000407456.1:p.Glu266Asp | |
| NM_025268.2:c.798G>C | NP_079544.1:p.Glu266Asp | |
| XM_005268101.2:c.798G>C | XP_005268158.1:p.Glu266Asp | |
| XM_006720261.2:c.798G>C | XP_006720324.1:p.Glu266Asp | |
| XM_011537185.1:c.798G>C | XP_011535487.1:p.Glu266Asp | |
| XM_011537186.1:c.798G>C | XP_011535488.1:p.Glu266Asp | |
| NM_001331238.1:c.798G>C | NP_001318167.1:p.Glu266Asp | |
| NM_025268.3:c.798G>C | NP_079544.1:p.Glu266Asp | |
| XM_006720261.3:c.798G>C | XP_006720324.1:p.Glu266Asp | |
| NM_025268.4:c.798G>C MANE Select | NP_079544.1:p.Glu266Asp | |
| NM_001331238.2:c.798G>C | NP_001318167.1:p.Glu266Asp |