COSMIC:
COSN6446205 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.43185936 (NFE)
Genomes Max Group AF
0.43185936 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.228347383C>T , CM000663.2:g.228347383C>T | GRCh38 |
| NC_000001.10:g.228535084C>T , CM000663.1:g.228535084C>T | GRCh37 |
| NC_000001.9:g.226601707C>T | NCBI36 |
| NG_032122.1:g.144224C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284548.16:c.18149-2507C>T | ENSP00000284548.11:n.18149-2507C>T | |
| ENST00000570156.7:c.21020-2507C>T | ENSP00000455507.2:n.21020-2507C>T | |
| ENST00000636476.2:c.18152-2507C>T | ENSP00000489816.2:n.18152-2507C>T | |
| ENST00000662438.1:c.19694-2507C>T | ENSP00000499633.1:n.19694-2507C>T | |
| ENST00000664561.1:c.1028-2507C>T | ENSP00000499480.1:n.1028-2507C>T | |
| ENST00000664957.1:c.2071-2507C>T | ||
| ENST00000680850.1:c.21020-2507C>T MANE Select | ENSP00000505517.1:n.21020-2507C>T | |
| ENST00000284548.15:c.18149-2507C>T | ENSP00000284548.11:n.18149-2507C>T | |
| ENST00000366707.8:c.21020-2507C>T | ENSP00000355668.5:n.21020-2507C>T | |
| ENST00000422127.5:c.18149-2507C>T | ENSP00000409493.1:n.18149-2507C>T | |
| ENST00000483539.2:c.4694-9435C>T | ||
| ENST00000570156.6:c.21020-2507C>T | ENSP00000455507.2:n.21020-2507C>T | |
| NM_001098623.2:c.18149-2507C>T | NP_001092093.2:n.18149-2507C>T | |
| NM_001271223.2:c.21020-2507C>T | NP_001258152.2:n.21020-2507C>T | |
| NM_052843.3:c.18149-2507C>T | NP_443075.3:n.18149-2507C>T | |
| XM_005273287.3:c.21323-2507C>T | XP_005273344.1:n.21323-2507C>T | |
| XM_005273288.3:c.21323-2507C>T | XP_005273345.1:n.21323-2507C>T | |
| XM_005273289.3:c.21320-2507C>T | XP_005273346.1:n.21320-2507C>T | |
| XM_005273290.3:c.21320-2507C>T | XP_005273347.1:n.21320-2507C>T | |
| XM_005273291.3:c.21287-2507C>T | XP_005273348.1:n.21287-2507C>T | |
| XM_005273292.3:c.21059-2507C>T | XP_005273349.1:n.21059-2507C>T | |
| XM_005273293.3:c.21059-2507C>T | XP_005273350.1:n.21059-2507C>T | |
| XM_005273294.3:c.21059-2507C>T | XP_005273351.1:n.21059-2507C>T | |
| XM_005273295.3:c.21047-2507C>T | XP_005273352.1:n.21047-2507C>T | |
| XM_005273296.3:c.21047-2507C>T | XP_005273353.1:n.21047-2507C>T | |
| XM_005273297.3:c.21047-2507C>T | XP_005273354.1:n.21047-2507C>T | |
| XM_005273298.3:c.21014-2507C>T | XP_005273355.1:n.21014-2507C>T | |
| XM_005273299.3:c.20795-2507C>T | XP_005273356.1:n.20795-2507C>T | |
| XM_005273300.3:c.20795-2507C>T | XP_005273357.1:n.20795-2507C>T | |
| XM_005273301.3:c.20795-2507C>T | XP_005273358.1:n.20795-2507C>T | |
| XM_005273302.3:c.20771-2507C>T | XP_005273359.1:n.20771-2507C>T | |
| XM_005273304.3:c.20531-2507C>T | XP_005273361.1:n.20531-2507C>T | |
| XM_005273305.3:c.20267-2507C>T | XP_005273362.1:n.20267-2507C>T | |
| XM_005273307.3:c.20201-2507C>T | XP_005273364.1:n.20201-2507C>T | |
| XM_005273309.3:c.21323-2507C>T | XP_005273366.1:n.21323-2507C>T | |
| XM_005273310.3:c.21320-2507C>T | XP_005273367.1:n.21320-2507C>T | |
| XM_006711819.2:c.21173-2507C>T | XP_006711882.1:n.21173-2507C>T | |
| XM_006711820.2:c.21059-2507C>T | XP_006711883.1:n.21059-2507C>T | |
| XM_006711821.2:c.20783-2507C>T | XP_006711884.1:n.20783-2507C>T | |
| XM_006711822.2:c.20747-2507C>T | XP_006711885.1:n.20747-2507C>T | |
| XM_006711823.2:c.20744-2507C>T | XP_006711886.1:n.20744-2507C>T | |
| XM_006711824.2:c.19739-2507C>T | XP_006711887.1:n.19739-2507C>T | |
| XM_006711825.2:c.18419-2507C>T | XP_006711888.1:n.18419-2507C>T | |
| XM_006711826.2:c.21323-2507C>T | XP_006711889.1:n.21323-2507C>T | |
| XM_006711827.2:c.19160-2507C>T | XP_006711890.1:n.19160-2507C>T | |
| XM_006711828.2:c.21020-2507C>T | XP_006711891.1:n.21020-2507C>T | |
| XM_006711829.2:c.18884-2507C>T | XP_006711892.1:n.18884-2507C>T | |
| XM_011544290.1:c.21047-2507C>T | XP_011542592.1:n.21047-2507C>T | |
| XM_011544291.1:c.20750-2507C>T | XP_011542593.1:n.20750-2507C>T | |
| XM_011544292.1:c.20531-2507C>T | XP_011542594.1:n.20531-2507C>T | |
| XM_011544293.1:c.20531-2507C>T | XP_011542595.1:n.20531-2507C>T | |
| XM_011544294.1:c.20531-2507C>T | XP_011542596.1:n.20531-2507C>T | |
| XM_011544295.1:c.20219-2507C>T | XP_011542597.1:n.20219-2507C>T | |
| XM_011544296.1:c.19475-2507C>T | XP_011542598.1:n.19475-2507C>T | |
| XM_011544297.1:c.19160-2507C>T | XP_011542599.1:n.19160-2507C>T | |
| XM_011544299.1:c.18884-2507C>T | XP_011542601.1:n.18884-2507C>T | |
| XM_005273287.5:c.21323-2507C>T | XP_005273344.1:n.21323-2507C>T | |
| XM_005273291.5:c.21287-2507C>T | XP_005273348.1:n.21287-2507C>T | |
| XM_005273298.5:c.21014-2507C>T | XP_005273355.1:n.21014-2507C>T | |
| XM_005273307.5:c.20201-2507C>T | XP_005273364.1:n.20201-2507C>T | |
| XM_006711822.4:c.20747-2507C>T | XP_006711885.1:n.20747-2507C>T | |
| XM_006711823.4:c.20744-2507C>T | XP_006711886.1:n.20744-2507C>T | |
| XM_006711827.4:c.19160-2507C>T | XP_006711890.1:n.19160-2507C>T | |
| XM_006711829.4:c.18884-2507C>T | XP_006711892.1:n.18884-2507C>T | |
| XM_011544297.3:c.19160-2507C>T | XP_011542599.1:n.19160-2507C>T | |
| XM_011544299.3:c.18884-2507C>T | XP_011542601.1:n.18884-2507C>T | |
| XM_017002443.2:c.21368-2507C>T | XP_016857932.1:n.21368-2507C>T | |
| XM_017002444.2:c.21368-2507C>T | XP_016857933.1:n.21368-2507C>T | |
| XM_017002445.2:c.21368-2507C>T | XP_016857934.1:n.21368-2507C>T | |
| XM_017002446.2:c.21365-2507C>T | XP_016857935.1:n.21365-2507C>T | |
| XM_017002447.2:c.21365-2507C>T | XP_016857936.1:n.21365-2507C>T | |
| XM_017002448.2:c.21218-2507C>T | XP_016857937.1:n.21218-2507C>T | |
| XM_017002449.2:c.21104-2507C>T | XP_016857938.1:n.21104-2507C>T | |
| XM_017002450.2:c.21104-2507C>T | XP_016857939.1:n.21104-2507C>T | |
| XM_017002451.2:c.21104-2507C>T | XP_016857940.1:n.21104-2507C>T | |
| XM_017002452.2:c.21104-2507C>T | XP_016857941.1:n.21104-2507C>T | |
| XM_017002453.2:c.21092-2507C>T | XP_016857942.1:n.21092-2507C>T | |
| XM_017002454.2:c.21092-2507C>T | XP_016857943.1:n.21092-2507C>T | |
| XM_017002455.2:c.21092-2507C>T | XP_016857944.1:n.21092-2507C>T | |
| XM_017002456.2:c.21092-2507C>T | XP_016857945.1:n.21092-2507C>T | |
| XM_017002457.2:c.21092-2507C>T | XP_016857946.1:n.21092-2507C>T | |
| XM_017002458.2:c.20840-2507C>T | XP_016857947.1:n.20840-2507C>T | |
| XM_017002459.2:c.20840-2507C>T | XP_016857948.1:n.20840-2507C>T | |
| XM_017002460.2:c.20840-2507C>T | XP_016857949.1:n.20840-2507C>T | |
| XM_017002461.2:c.20828-2507C>T | XP_016857950.1:n.20828-2507C>T | |
| XM_017002462.2:c.20816-2507C>T | XP_016857951.1:n.20816-2507C>T | |
| XM_017002463.2:c.20795-2507C>T | XP_016857952.1:n.20795-2507C>T | |
| XM_017002464.2:c.20744-2507C>T | XP_016857953.1:n.20744-2507C>T | |
| XM_017002465.2:c.20576-2507C>T | XP_016857954.1:n.20576-2507C>T | |
| XM_017002466.2:c.20576-2507C>T | XP_016857955.1:n.20576-2507C>T | |
| XM_017002467.2:c.20576-2507C>T | XP_016857956.1:n.20576-2507C>T | |
| XM_017002468.2:c.20312-2507C>T | XP_016857957.1:n.20312-2507C>T | |
| XM_017002469.2:c.19784-2507C>T | XP_016857958.1:n.19784-2507C>T | |
| XM_017002470.2:c.18464-2507C>T | XP_016857959.1:n.18464-2507C>T | |
| XM_017002471.2:c.21368-2507C>T | XP_016857960.1:n.21368-2507C>T | |
| XM_017002472.2:c.21365-2507C>T | XP_016857961.1:n.21365-2507C>T | |
| XM_017002473.2:c.21368-2507C>T | XP_016857962.1:n.21368-2507C>T | |
| NM_052843.4:c.18149-2507C>T | NP_443075.3:n.18149-2507C>T | |
| NM_001271223.3:c.21020-2507C>T | NP_001258152.2:n.21020-2507C>T | |
| NM_001386125.1:c.21020-2507C>T MANE Select | NP_001373054.1:n.21020-2507C>T |