COSMIC:
COSM4002970 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.61363636 (AFR)
Genomes Max Group AF
0.61292976 (AFR)
Exomes Max Group AF
0.61016891 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.153703504T>C , CM000666.2:g.153703504T>C | GRCh38 |
| NC_000004.11:g.154624656T>C , CM000666.1:g.154624656T>C | GRCh37 |
| NC_000004.10:g.154844106T>C | NCBI36 |
| NG_016229.1:g.24216T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643501.2:c.597T>C | ENSP00000496208.2:p.Asn199= | |
| ENST00000646219.2:c.597T>C | ENSP00000496676.2:p.Asn199= | |
| ENST00000646900.2:c.597T>C | ENSP00000493968.2:p.Asn199= | |
| ENST00000642580.1:c.597T>C | ENSP00000495339.1:p.Asn199= | |
| ENST00000642700.2:c.597T>C MANE Select | ENSP00000494425.1:p.Asn199= | |
| ENST00000643087.1:c.221+376T>C | ENSP00000494668.1:n.221+376T>C | |
| ENST00000646900.1:c.597T>C | ENSP00000493968.1:p.Asn199= | |
| ENST00000260010.6:c.597T>C | ENSP00000260010.6:p.Asn199= | |
| NM_003264.3:c.597T>C | NP_003255.2:p.Asn199= | |
| XM_005263193.2:c.597T>C | XP_005263250.1:p.Asn199= | |
| XM_005263194.2:c.597T>C | XP_005263251.1:p.Asn199= | |
| XM_005263195.2:c.597T>C | XP_005263252.1:p.Asn199= | |
| XM_005263196.2:c.597T>C | XP_005263253.1:p.Asn199= | |
| XM_005263197.2:c.597T>C | XP_005263254.1:p.Asn199= | |
| XM_011532215.1:c.597T>C | XP_011530517.1:p.Asn199= | |
| XM_011532216.1:c.597T>C | XP_011530518.1:p.Asn199= | |
| NM_001318787.1:c.597T>C | NP_001305716.1:p.Asn199= | |
| NM_001318789.1:c.597T>C | NP_001305718.1:p.Asn199= | |
| NM_001318790.1:c.597T>C | NP_001305719.1:p.Asn199= | |
| NM_001318791.1:c.597T>C | NP_001305720.1:p.Asn199= | |
| NM_001318793.1:c.597T>C | NP_001305722.1:p.Asn199= | |
| NM_001318795.1:c.597T>C | NP_001305724.1:p.Asn199= | |
| NM_001318796.1:c.597T>C | NP_001305725.1:p.Asn199= | |
| NM_003264.4:c.597T>C | NP_003255.2:p.Asn199= | |
| XM_011532215.2:c.597T>C | XP_011530517.1:p.Asn199= | |
| XM_011532216.2:c.597T>C | XP_011530518.1:p.Asn199= | |
| XM_017008573.1:c.597T>C | XP_016864062.1:p.Asn199= | |
| XM_017008574.1:c.597T>C | XP_016864063.1:p.Asn199= | |
| XM_017008575.1:c.597T>C | XP_016864064.1:p.Asn199= | |
| XM_017008576.1:c.597T>C | XP_016864065.1:p.Asn199= | |
| NM_001318787.2:c.597T>C | NP_001305716.1:p.Asn199= | |
| NM_001318789.2:c.597T>C MANE Select | NP_001305718.1:p.Asn199= | |
| NM_001318790.2:c.597T>C | NP_001305719.1:p.Asn199= | |
| NM_001318791.2:c.597T>C | NP_001305720.1:p.Asn199= | |
| NM_001318793.2:c.597T>C | NP_001305722.1:p.Asn199= | |
| NM_001318795.2:c.597T>C | NP_001305724.1:p.Asn199= | |
| NM_001318796.2:c.597T>C | NP_001305725.1:p.Asn199= | |
| NM_003264.5:c.597T>C | NP_003255.2:p.Asn199= |