Linked Data
ClinVar Variation Id:
2159040
ClinVar RCV Id:
RCV003072607
dbSNP Id:
rs1053875389
gnomAD v2:
8-61765854-A-G
gnomAD v3:
8-60853295-A-G
gnomAD v4:
8-60853295-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.60853295A>G , CM000670.2:g.60853295A>G | GRCh38 |
| NC_000008.10:g.61765854A>G , CM000670.1:g.61765854A>G | GRCh37 |
| NC_000008.9:g.61928408A>G | NCBI36 |
| NG_007009.1:g.179516A>G , LRG_176:g.179516A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695853.1:c.6570A>G | ENSP00000512218.1:p.Lys2190= | |
| ENST00000423902.7:c.6570A>G MANE Select | ENSP00000392028.1:p.Lys2190= | |
| ENST00000423902.6:c.6570A>G | ENSP00000392028.1:p.Lys2190= | |
| ENST00000524602.5:c.1717-8934A>G | ENSP00000437061.1:n.1717-8934A>G | |
| NM_001316690.1:c.1717-8934A>G | NP_001303619.1:n.1717-8934A>G | |
| NM_017780.3:c.6570A>G | NP_060250.2:p.Lys2190= | |
| XM_011517553.1:c.6660A>G | XP_011515855.1:p.Lys2220= | |
| XM_011517554.1:c.6660A>G | XP_011515856.1:p.Lys2220= | |
| XM_011517555.1:c.6660A>G | XP_011515857.1:p.Lys2220= | |
| XM_011517556.1:c.6660A>G | XP_011515858.1:p.Lys2220= | |
| XM_011517557.1:c.4647A>G | XP_011515859.1:p.Lys1549= | |
| XM_011517558.1:c.4197A>G | XP_011515860.1:p.Lys1399= | |
| XM_011517559.1:c.3405A>G | XP_011515861.1:p.Lys1135= | |
| XM_011517553.2:c.6660A>G | XP_011515855.1:p.Lys2220= | |
| XM_011517554.3:c.6660A>G | XP_011515856.1:p.Lys2220= | |
| XM_011517555.2:c.6660A>G | XP_011515857.1:p.Lys2220= | |
| XM_017013612.1:c.6660A>G | XP_016869101.1:p.Lys2220= | |
| XM_017013613.1:c.6570A>G | XP_016869102.1:p.Lys2190= | |
| NM_017780.4:c.6570A>G MANE Select | NP_060250.2:p.Lys2190= |