Linked Data
ClinVar Variation Id:
1400823
ClinVar RCV Id:
RCV001896772
dbSNP Id:
rs1294279847
gnomAD v2:
4-81123511-G-C
gnomAD v4:
4-80202357-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.80202357G>C , CM000666.2:g.80202357G>C | GRCh38 |
| NC_000004.11:g.81123511G>C , CM000666.1:g.81123511G>C | GRCh37 |
| NC_000004.10:g.81342535G>C | NCBI36 |
| NG_046725.1:g.22088G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415738.3:c.895G>C MANE Select | ENSP00000406998.2:p.Glu299Gln | |
| ENST00000339711.8:c.895G>C | ENSP00000339764.4:p.Glu299Gln | |
| ENST00000415738.2:c.895G>C | ENSP00000406998.2:p.Glu299Gln | |
| ENST00000504452.5:c.895G>C | ENSP00000423985.1:p.Glu299Gln | |
| ENST00000515013.5:c.895G>C | ENSP00000425149.1:p.Glu299Gln | |
| NM_001099403.1:c.895G>C | NP_001092873.1:p.Glu299Gln | |
| NM_020226.3:c.895G>C | NP_064611.3:p.Glu299Gln | |
| XM_005263144.2:c.898G>C | XP_005263201.1:p.Glu300Gln | |
| XM_005263145.2:c.898G>C | XP_005263202.1:p.Glu300Gln | |
| XM_005263146.3:c.895G>C | XP_005263203.1:p.Glu299Gln | |
| XM_011532133.1:c.1738G>C | XP_011530435.1:p.Glu580Gln | |
| XM_011532134.1:c.1735G>C | XP_011530436.1:p.Glu579Gln | |
| XM_011532135.1:c.1597G>C | XP_011530437.1:p.Glu533Gln | |
| XM_011532136.1:c.1450G>C | XP_011530438.1:p.Glu484Gln | |
| XM_011532137.1:c.1450G>C | XP_011530439.1:p.Glu484Gln | |
| XM_011532138.1:c.1450G>C | XP_011530440.1:p.Glu484Gln | |
| XM_011532139.1:c.1450G>C | XP_011530441.1:p.Glu484Gln | |
| XM_011532140.1:c.1450G>C | XP_011530442.1:p.Glu484Gln | |
| XM_011532141.1:c.1312G>C | XP_011530443.1:p.Glu438Gln | |
| XM_011532142.1:c.1291G>C | XP_011530444.1:p.Glu431Gln | |
| XM_005263146.4:c.895G>C | XP_005263203.1:p.Glu299Gln | |
| XM_011532133.2:c.1738G>C | XP_011530435.1:p.Glu580Gln | |
| XM_011532135.2:c.1597G>C | XP_011530437.1:p.Glu533Gln | |
| XM_011532140.2:c.1450G>C | XP_011530442.1:p.Glu484Gln | |
| XM_011532141.3:c.1312G>C | XP_011530443.1:p.Glu438Gln | |
| XM_017008468.1:c.1447G>C | XP_016863957.1:p.Glu483Gln | |
| XM_017008469.1:c.1534G>C | XP_016863958.1:p.Glu512Gln | |
| XM_017008470.1:c.1450G>C | XP_016863959.1:p.Glu484Gln | |
| NM_001099403.2:c.895G>C MANE Select | NP_001092873.1:p.Glu299Gln | |
| NM_020226.4:c.895G>C | NP_064611.3:p.Glu299Gln |