Linked Data
ClinVar Variation Id:
1393105
ClinVar RCV Id:
RCV001912487
dbSNP Id:
rs1586467143
gnomAD v4:
8-60865103-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.60865103A>C , CM000670.2:g.60865103A>C | GRCh38 |
| NC_000008.10:g.61777662A>C , CM000670.1:g.61777662A>C | GRCh37 |
| NC_000008.9:g.61940216A>C | NCBI36 |
| NG_007009.1:g.191324A>C , LRG_176:g.191324A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695850.1:n.1340A>C | ||
| ENST00000695852.1:n.271A>C | ||
| ENST00000695853.1:c.*1223A>C | ENSP00000512218.1:n.*1223A>C | |
| ENST00000423902.7:c.8164A>C MANE Select | ENSP00000392028.1:p.Lys2722Gln | |
| ENST00000423902.6:c.8164A>C | ENSP00000392028.1:p.Lys2722Gln | |
| ENST00000524602.5:c.2017A>C | ENSP00000437061.1:p.Lys673Gln | |
| ENST00000528280.1:n.210A>C | ||
| ENST00000532149.1:n.586A>C | ||
| ENST00000618450.1:n.4200A>C | ||
| NM_001316690.1:c.2017A>C | NP_001303619.1:p.Lys673Gln | |
| NM_017780.3:c.8164A>C | NP_060250.2:p.Lys2722Gln | |
| XM_011517553.1:c.8254A>C | XP_011515855.1:p.Lys2752Gln | |
| XM_011517554.1:c.8254A>C | XP_011515856.1:p.Lys2752Gln | |
| XM_011517555.1:c.8251A>C | XP_011515857.1:p.Lys2751Gln | |
| XM_011517556.1:c.8032A>C | XP_011515858.1:p.Lys2678Gln | |
| XM_011517557.1:c.6241A>C | XP_011515859.1:p.Lys2081Gln | |
| XM_011517558.1:c.5791A>C | XP_011515860.1:p.Lys1931Gln | |
| XM_011517559.1:c.4999A>C | XP_011515861.1:p.Lys1667Gln | |
| XM_011517553.2:c.8254A>C | XP_011515855.1:p.Lys2752Gln | |
| XM_011517554.3:c.8254A>C | XP_011515856.1:p.Lys2752Gln | |
| XM_011517555.2:c.8251A>C | XP_011515857.1:p.Lys2751Gln | |
| XM_017013612.1:c.8254A>C | XP_016869101.1:p.Lys2752Gln | |
| XM_017013613.1:c.8161A>C | XP_016869102.1:p.Lys2721Gln | |
| NM_017780.4:c.8164A>C MANE Select | NP_060250.2:p.Lys2722Gln |