COSMIC:
COSN14920430 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.58755904 (EAS)
Genomes Max Group AF
0.58755904 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.16464982T>G , CM000671.2:g.16464982T>G | GRCh38 |
| NC_000009.11:g.16464980T>G , CM000671.1:g.16464980T>G | GRCh37 |
| NC_000009.10:g.16454980T>G | NCBI36 |
| NG_051226.1:g.410857A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700553.1:c.340-27458A>C | ENSP00000515060.1:n.340-27458A>C | |
| ENST00000380672.9:c.670-27458A>C MANE Select | ENSP00000370047.3:n.670-27458A>C | |
| ENST00000380666.6:c.436-27458A>C | ENSP00000370041.3:n.436-27458A>C | |
| ENST00000380667.6:c.469-27458A>C | ENSP00000370042.1:n.469-27458A>C | |
| ENST00000380672.8:c.670-27458A>C | ENSP00000370047.3:n.670-27458A>C | |
| ENST00000418777.5:c.541-27458A>C | ENSP00000408370.1:n.541-27458A>C | |
| ENST00000484726.5:c.670-27458A>C | ENSP00000431516.1:n.670-27458A>C | |
| ENST00000545497.5:c.148-27458A>C | ENSP00000444640.2:n.148-27458A>C | |
| ENST00000603713.5:c.436-27458A>C | ENSP00000474045.1:n.436-27458A>C | |
| NM_017637.5:c.670-27458A>C | NP_060107.3:n.670-27458A>C | |
| XM_011517921.1:c.754-27458A>C | XP_011516223.1:n.754-27458A>C | |
| XM_011517922.1:c.712-27458A>C | XP_011516224.1:n.712-27458A>C | |
| XM_011517923.1:c.712-27458A>C | XP_011516225.1:n.712-27458A>C | |
| XM_011517924.1:c.544-27458A>C | XP_011516226.1:n.544-27458A>C | |
| XM_011517925.1:c.373-27458A>C | XP_011516227.1:n.373-27458A>C | |
| XM_011517926.1:c.343-27458A>C | XP_011516228.1:n.343-27458A>C | |
| XM_011517927.1:c.148-27458A>C | XP_011516229.1:n.148-27458A>C | |
| XM_011517928.1:c.796-27458A>C | XP_011516230.1:n.796-27458A>C | |
| XM_011517929.1:c.-36-27458A>C | XP_011516231.1:n.-36-27458A>C | |
| XM_011517930.1:c.-36-27458A>C | XP_011516232.1:n.-36-27458A>C | |
| XM_011517932.1:c.-36-27458A>C | XP_011516234.1:n.-36-27458A>C | |
| XM_011517933.1:c.544-27458A>C | XP_011516235.1:n.544-27458A>C | |
| XM_011517934.1:c.148-27458A>C | XP_011516236.1:n.148-27458A>C | |
| NM_001317939.1:c.544-27458A>C | NP_001304868.1:n.544-27458A>C | |
| NM_001317940.1:c.385-27458A>C | NP_001304869.1:n.385-27458A>C | |
| XM_011517924.2:c.544-27458A>C | XP_011516226.1:n.544-27458A>C | |
| XM_011517934.2:c.148-27458A>C | XP_011516236.1:n.148-27458A>C | |
| XM_017014816.1:c.796-27458A>C | XP_016870305.1:n.796-27458A>C | |
| XM_017014817.1:c.796-27458A>C | XP_016870306.1:n.796-27458A>C | |
| XM_017014818.1:c.712-27458A>C | XP_016870307.1:n.712-27458A>C | |
| XM_017014819.1:c.796-27458A>C | XP_016870308.1:n.796-27458A>C | |
| XM_017014820.1:c.796-27458A>C | XP_016870309.1:n.796-27458A>C | |
| XM_017014821.1:c.712-27458A>C | XP_016870310.1:n.712-27458A>C | |
| XM_017014822.1:c.343-27458A>C | XP_016870311.1:n.343-27458A>C | |
| XM_017014823.1:c.343-27458A>C | XP_016870312.1:n.343-27458A>C | |
| XM_017014824.1:c.148-27458A>C | XP_016870313.1:n.148-27458A>C | |
| XM_017014825.2:c.796-27458A>C | XP_016870314.1:n.796-27458A>C | |
| XM_017014826.1:c.796-27458A>C | XP_016870315.1:n.796-27458A>C | |
| XM_017014827.1:c.796-27458A>C | XP_016870316.1:n.796-27458A>C | |
| XM_017014828.1:c.796-27458A>C | XP_016870317.1:n.796-27458A>C | |
| XM_017014829.2:c.-36-27458A>C | XP_016870318.1:n.-36-27458A>C | |
| NM_017637.6:c.670-27458A>C MANE Select | NP_060107.3:n.670-27458A>C | |
| NM_001317939.2:c.544-27458A>C | NP_001304868.1:n.544-27458A>C | |
| NM_001317940.2:c.385-27458A>C | NP_001304869.1:n.385-27458A>C |