Linked Data
ClinVar Variation Id:
136254
dbSNP Id:
rs79530903
ExAC:
3:128622934 A / C
gnomAD v2:
3-128622934-A-C
gnomAD v3:
3-128904091-A-C
gnomAD v4:
3-128904091-A-C
COSMIC:
COSM149465
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.128904091A>C , CM000665.2:g.128904091A>C | GRCh38 |
| NC_000003.11:g.128622934A>C , CM000665.1:g.128622934A>C | GRCh37 |
| NC_000003.10:g.130105624A>C | NCBI36 |
| NG_017064.1:g.29602A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308982.12:c.988A>C MANE Select | ENSP00000312618.7:p.Lys330Gln | |
| ENST00000511325.2:n.1066A>C | ||
| ENST00000679399.1:c.*882A>C | ENSP00000505434.1:n.*882A>C | |
| ENST00000679431.1:c.*864A>C | ENSP00000506440.1:n.*864A>C | |
| ENST00000679613.1:c.988A>C | ENSP00000504971.1:p.Lys330Gln | |
| ENST00000679715.1:c.619A>C | ENSP00000506228.1:p.Lys207Gln | |
| ENST00000679824.1:c.*2294A>C | ENSP00000505516.1:n.*2294A>C | |
| ENST00000679990.1:n.1223A>C | ||
| ENST00000680636.1:c.988A>C | ENSP00000504886.1:p.Lys330Gln | |
| ENST00000680744.1:c.*341A>C | ENSP00000505243.1:n.*341A>C | |
| ENST00000680764.1:c.*2392A>C | ENSP00000505126.1:n.*2392A>C | |
| ENST00000681319.1:n.1066A>C | ||
| ENST00000681367.1:c.988A>C | ENSP00000505309.1:p.Lys330Gln | |
| ENST00000681552.1:c.988A>C | ENSP00000505699.1:p.Lys330Gln | |
| ENST00000681583.1:c.988A>C | ENSP00000506340.1:p.Lys330Gln | |
| ENST00000681585.1:c.988A>C | ENSP00000506316.1:p.Lys330Gln | |
| ENST00000681589.1:n.1202A>C | ||
| ENST00000681784.1:n.1066A>C | ||
| ENST00000681886.1:c.*181A>C | ENSP00000506500.1:n.*181A>C | |
| ENST00000308982.11:c.988A>C | ENSP00000312618.7:p.Lys330Gln | |
| ENST00000505192.5:c.*684A>C | ENSP00000426277.1:n.*684A>C | |
| ENST00000505867.5:c.*788A>C | ENSP00000425346.1:n.*788A>C | |
| ENST00000508971.1:c.277A>C | ENSP00000422683.1:p.Lys93Gln | |
| ENST00000511227.5:c.*882A>C | ENSP00000425226.1:n.*882A>C | |
| ENST00000511526.5:n.493A>C | ||
| NM_014049.4:c.988A>C | NP_054768.2:p.Lys330Gln | |
| NR_033426.1:n.1366A>C | ||
| XM_011512742.1:c.619A>C | XP_011511044.1:p.Lys207Gln | |
| XR_427367.1:n.1064A>C | ||
| XM_024453484.1:c.619A>C | XP_024309252.1:p.Lys207Gln | |
| XM_024453485.1:c.619A>C | XP_024309253.1:p.Lys207Gln | |
| XR_427367.3:n.1064A>C | ||
| NM_014049.5:c.988A>C MANE Select | NP_054768.2:p.Lys330Gln | |
| NR_033426.2:n.1236A>C |