Linked Data
ClinVar Variation Id:
1434308
ClinVar RCV Id:
RCV001946289
dbSNP Id:
rs1234825510
gnomAD v2:
4-81123572-A-C
gnomAD v4:
4-80202418-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.80202418A>C , CM000666.2:g.80202418A>C | GRCh38 |
| NC_000004.11:g.81123572A>C , CM000666.1:g.81123572A>C | GRCh37 |
| NC_000004.10:g.81342596A>C | NCBI36 |
| NG_046725.1:g.22149A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415738.3:c.956A>C MANE Select | ENSP00000406998.2:p.Glu319Ala | |
| ENST00000339711.8:c.956A>C | ENSP00000339764.4:p.Glu319Ala | |
| ENST00000415738.2:c.956A>C | ENSP00000406998.2:p.Glu319Ala | |
| ENST00000504452.5:c.956A>C | ENSP00000423985.1:p.Glu319Ala | |
| ENST00000515013.5:c.956A>C | ENSP00000425149.1:p.Glu319Ala | |
| NM_001099403.1:c.956A>C | NP_001092873.1:p.Glu319Ala | |
| NM_020226.3:c.956A>C | NP_064611.3:p.Glu319Ala | |
| XM_005263144.2:c.959A>C | XP_005263201.1:p.Glu320Ala | |
| XM_005263145.2:c.959A>C | XP_005263202.1:p.Glu320Ala | |
| XM_005263146.3:c.956A>C | XP_005263203.1:p.Glu319Ala | |
| XM_011532133.1:c.1799A>C | XP_011530435.1:p.Glu600Ala | |
| XM_011532134.1:c.1796A>C | XP_011530436.1:p.Glu599Ala | |
| XM_011532135.1:c.1658A>C | XP_011530437.1:p.Glu553Ala | |
| XM_011532136.1:c.1511A>C | XP_011530438.1:p.Glu504Ala | |
| XM_011532137.1:c.1511A>C | XP_011530439.1:p.Glu504Ala | |
| XM_011532138.1:c.1511A>C | XP_011530440.1:p.Glu504Ala | |
| XM_011532139.1:c.1511A>C | XP_011530441.1:p.Glu504Ala | |
| XM_011532140.1:c.1511A>C | XP_011530442.1:p.Glu504Ala | |
| XM_011532141.1:c.1373A>C | XP_011530443.1:p.Glu458Ala | |
| XM_011532142.1:c.1352A>C | XP_011530444.1:p.Glu451Ala | |
| XM_005263146.4:c.956A>C | XP_005263203.1:p.Glu319Ala | |
| XM_011532133.2:c.1799A>C | XP_011530435.1:p.Glu600Ala | |
| XM_011532135.2:c.1658A>C | XP_011530437.1:p.Glu553Ala | |
| XM_011532140.2:c.1511A>C | XP_011530442.1:p.Glu504Ala | |
| XM_011532141.3:c.1373A>C | XP_011530443.1:p.Glu458Ala | |
| XM_017008468.1:c.1508A>C | XP_016863957.1:p.Glu503Ala | |
| XM_017008469.1:c.1595A>C | XP_016863958.1:p.Glu532Ala | |
| XM_017008470.1:c.1511A>C | XP_016863959.1:p.Glu504Ala | |
| NM_001099403.2:c.956A>C MANE Select | NP_001092873.1:p.Glu319Ala | |
| NM_020226.4:c.956A>C | NP_064611.3:p.Glu319Ala |