Linked Data
ClinVar Variation Id:
16348
ClinVar RCV Id:
RCV002228032
dbSNP Id:
rs78311289
ExAC:
4:1807889 A / C
gnomAD v2:
4-1807889-A-C
gnomAD v4:
4-1806162-A-C
COSMIC:
COSM726
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1806162A>C , CM000666.2:g.1806162A>C | GRCh38 |
| NC_000004.11:g.1807889A>C , CM000666.1:g.1807889A>C | GRCh37 |
| NC_000004.10:g.1777687A>C | NCBI36 |
| NG_012632.1:g.17851A>C , LRG_1021:g.17851A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000340107.9:c.1954A>C | ENSP00000339824.4:p.Lys652Gln | |
| ENST00000260795.8:c.*1004A>C | ENSP00000260795.3:n.*1004A>C | |
| ENST00000352904.6:c.1612A>C | ENSP00000231803.1:p.Lys538Gln | |
| ENST00000412135.7:c.1936A>C | ENSP00000412903.3:p.Lys646Gln | |
| ENST00000440486.8:c.1948A>C MANE Select | ENSP00000414914.2:p.Lys650Gln | |
| ENST00000481110.7:c.1951A>C | ENSP00000420533.2:p.Lys651Gln | |
| ENST00000260795.6:c.1948A>C | ENSP00000260795.2:p.Lys650Gln | |
| ENST00000340107.8:c.1954A>C | ENSP00000339824.4:p.Lys652Gln | |
| ENST00000352904.5:c.1612A>C | ENSP00000231803.1:p.Lys538Gln | |
| ENST00000412135.6:c.1612A>C | ENSP00000412903.2:p.Lys538Gln | |
| ENST00000440486.6:c.1948A>C | ENSP00000414914.2:p.Lys650Gln | |
| ENST00000481110.6:c.1951A>C | ENSP00000420533.2:p.Lys651Gln | |
| ENST00000613647.4:c.*1004A>C | ENSP00000479472.1:n.*1004A>C | |
| NM_000142.4:c.1948A>C , LRG_1021t1:c.1948A>C | NP_000133.1:p.Lys650Gln | |
| NM_001163213.1:c.1954A>C , LRG_1021t2:c.1954A>C | NP_001156685.1:p.Lys652Gln | |
| NM_022965.3:c.1612A>C | NP_075254.1:p.Lys538Gln | |
| XM_006713868.1:c.1960A>C | XP_006713931.1:p.Lys654Gln | |
| XM_006713869.1:c.1960A>C | XP_006713932.1:p.Lys654Gln | |
| XM_006713870.1:c.1957A>C | XP_006713933.1:p.Lys653Gln | |
| XM_006713871.1:c.1954A>C | XP_006713934.1:p.Lys652Gln | |
| XM_006713872.1:c.1951A>C | XP_006713935.1:p.Lys651Gln | |
| XM_006713873.1:c.1948A>C | XP_006713936.1:p.Lys650Gln | |
| XM_011513420.1:c.1954A>C | XP_011511722.1:p.Lys652Gln | |
| XM_011513422.1:c.1951A>C | XP_011511724.1:p.Lys651Gln | |
| NM_001354809.1:c.1951A>C | NP_001341738.1:p.Lys651Gln | |
| NM_001354810.1:c.1951A>C | NP_001341739.1:p.Lys651Gln | |
| NR_148971.1:n.2355A>C | ||
| NM_001354809.2:c.1951A>C | NP_001341738.1:p.Lys651Gln | |
| NM_001354810.2:c.1951A>C | NP_001341739.1:p.Lys651Gln | |
| NR_148971.2:n.2374A>C | ||
| NM_000142.5:c.1948A>C MANE Select | NP_000133.1:p.Lys650Gln | |
| NM_001163213.2:c.1954A>C | NP_001156685.1:p.Lys652Gln | |
| NM_022965.4:c.1612A>C | NP_075254.1:p.Lys538Gln |