Linked Data
ClinVar Variation Id:
500289
ClinVar RCV Id:
RCV000592406
dbSNP Id:
rs200844984
ExAC:
12:15784598 T / G
gnomAD v2:
12-15784598-T-G
gnomAD v3:
12-15631664-T-G
gnomAD v4:
12-15631664-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.15631664T>G , CM000674.2:g.15631664T>G | GRCh38 |
| NC_000012.11:g.15784598T>G , CM000674.1:g.15784598T>G | GRCh37 |
| NC_000012.10:g.15675865T>G | NCBI36 |
| NG_041808.1:g.162913A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281172.10:c.1822A>C MANE Select | ENSP00000281172.5:p.Lys608Gln | |
| ENST00000642278.1:c.1822A>C | ENSP00000494689.1:p.Lys608Gln | |
| ENST00000642939.1:c.1873A>C | ENSP00000495312.1:p.Lys625Gln | |
| ENST00000644374.1:c.1822A>C | ENSP00000495956.1:p.Lys608Gln | |
| ENST00000645775.1:c.1822A>C | ENSP00000495824.1:p.Lys608Gln | |
| ENST00000646123.1:c.1846A>C | ENSP00000494338.1:p.Lys616Gln | |
| ENST00000646828.1:c.1822A>C | ENSP00000494842.1:p.Lys608Gln | |
| ENST00000646918.1:c.1822A>C | ENSP00000495722.1:p.Lys608Gln | |
| ENST00000647087.1:c.1822A>C | ENSP00000496406.1:p.Lys608Gln | |
| ENST00000647224.1:c.1822A>C | ENSP00000496516.1:p.Lys608Gln | |
| ENST00000281172.9:c.1822A>C | ENSP00000281172.5:p.Lys608Gln | |
| ENST00000540613.5:c.1042A>C | ENSP00000441888.1:p.Lys348Gln | |
| ENST00000542903.1:c.1042A>C | ENSP00000437806.1:p.Lys348Gln | |
| ENST00000543468.5:c.*1082A>C | ENSP00000445985.1:n.*1082A>C | |
| ENST00000543523.5:c.1822A>C | ENSP00000441867.1:p.Lys608Gln | |
| ENST00000543612.5:c.1822A>C | ENSP00000442388.1:p.Lys608Gln | |
| ENST00000545610.1:n.99A>C | ||
| NM_004447.5:c.1822A>C | NP_004438.3:p.Lys608Gln | |
| XM_005253339.1:c.1855A>C | XP_005253396.1:p.Lys619Gln | |
| XM_005253340.1:c.1822A>C | XP_005253397.1:p.Lys608Gln | |
| XM_006719057.1:c.1822A>C | XP_006719120.1:p.Lys608Gln | |
| XM_011520605.1:c.1882A>C | XP_011518907.1:p.Lys628Gln | |
| XM_011520606.1:c.1822A>C | XP_011518908.1:p.Lys608Gln | |
| XM_011520605.3:c.1882A>C | XP_011518907.1:p.Lys628Gln | |
| XM_024448878.1:c.1855A>C | XP_024304646.1:p.Lys619Gln | |
| XM_024448879.1:c.1822A>C | XP_024304647.1:p.Lys608Gln | |
| XM_024448880.1:c.1822A>C | XP_024304648.1:p.Lys608Gln | |
| XM_024448881.1:c.1822A>C | XP_024304649.1:p.Lys608Gln | |
| XM_024448882.1:c.1822A>C | XP_024304650.1:p.Lys608Gln | |
| NM_004447.6:c.1822A>C MANE Select | NP_004438.3:p.Lys608Gln |