Linked Data
ClinVar Variation Id:
2180998
ClinVar RCV Id:
RCV002603103
dbSNP Id:
rs761214775
ExAC:
8:61765798 G / A
gnomAD v2:
8-61765798-G-A
gnomAD v3:
8-60853239-G-A
gnomAD v4:
8-60853239-G-A
COSMIC:
COSM751043
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.60853239G>A , CM000670.2:g.60853239G>A | GRCh38 |
| NC_000008.10:g.61765798G>A , CM000670.1:g.61765798G>A | GRCh37 |
| NC_000008.9:g.61928352G>A | NCBI36 |
| NG_007009.1:g.179460G>A , LRG_176:g.179460G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695853.1:c.6514G>A | ENSP00000512218.1:p.Glu2172Lys | |
| ENST00000423902.7:c.6514G>A MANE Select | ENSP00000392028.1:p.Glu2172Lys | |
| ENST00000423902.6:c.6514G>A | ENSP00000392028.1:p.Glu2172Lys | |
| ENST00000524602.5:c.1717-8990G>A | ENSP00000437061.1:n.1717-8990G>A | |
| NM_001316690.1:c.1717-8990G>A | NP_001303619.1:n.1717-8990G>A | |
| NM_017780.3:c.6514G>A | NP_060250.2:p.Glu2172Lys | |
| XM_011517553.1:c.6604G>A | XP_011515855.1:p.Glu2202Lys | |
| XM_011517554.1:c.6604G>A | XP_011515856.1:p.Glu2202Lys | |
| XM_011517555.1:c.6604G>A | XP_011515857.1:p.Glu2202Lys | |
| XM_011517556.1:c.6604G>A | XP_011515858.1:p.Glu2202Lys | |
| XM_011517557.1:c.4591G>A | XP_011515859.1:p.Glu1531Lys | |
| XM_011517558.1:c.4141G>A | XP_011515860.1:p.Glu1381Lys | |
| XM_011517559.1:c.3349G>A | XP_011515861.1:p.Glu1117Lys | |
| XM_011517553.2:c.6604G>A | XP_011515855.1:p.Glu2202Lys | |
| XM_011517554.3:c.6604G>A | XP_011515856.1:p.Glu2202Lys | |
| XM_011517555.2:c.6604G>A | XP_011515857.1:p.Glu2202Lys | |
| XM_017013612.1:c.6604G>A | XP_016869101.1:p.Glu2202Lys | |
| XM_017013613.1:c.6514G>A | XP_016869102.1:p.Glu2172Lys | |
| NM_017780.4:c.6514G>A MANE Select | NP_060250.2:p.Glu2172Lys |