COSMIC:
COSM4001760 (not active)
COSM4001762 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.3741887 (AMR)
Genomes Max Group AF
0.35608879 (AMR)
Exomes Max Group AF
0.37837175 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.80574221T>C , CM000664.2:g.80574221T>C | GRCh38 |
| NC_000002.11:g.80801346T>C , CM000664.1:g.80801346T>C | GRCh37 |
| NC_000002.10:g.80654857T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402739.9:c.1800T>C MANE Select | ENSP00000384638.4:p.Val600= | |
| ENST00000343114.7:c.837T>C | ENSP00000341500.3:p.Val279= | |
| ENST00000361291.8:c.648T>C | ENSP00000355398.5:p.Val216= | |
| ENST00000402739.8:c.1800T>C | ENSP00000384638.4:p.Val600= | |
| ENST00000466387.5:c.1800T>C | ENSP00000418191.1:p.Val600= | |
| ENST00000496558.5:c.1800T>C | ENSP00000419295.1:p.Val600= | |
| ENST00000540488.5:c.648T>C | ENSP00000441705.2:p.Val216= | |
| ENST00000541047.5:c.696T>C | ENSP00000444675.2:p.Val232= | |
| ENST00000629316.2:c.1800T>C | ENSP00000486160.1:p.Val600= | |
| NM_001164883.1:c.1800T>C | NP_001158355.1:p.Val600= | |
| NM_001282597.2:c.1800T>C | NP_001269526.1:p.Val600= | |
| NM_001282598.1:c.1902T>C | NP_001269527.1:p.Val634= | |
| NM_001282599.1:c.837T>C | NP_001269528.1:p.Val279= | |
| NM_001282600.1:c.696T>C | NP_001269529.1:p.Val232= | |
| NM_004389.3:c.1800T>C | NP_004380.2:p.Val600= | |
| XM_006711949.2:c.696T>C | XP_006712012.1:p.Val232= | |
| XM_011532555.1:c.1800T>C | XP_011530857.1:p.Val600= | |
| XM_011532556.1:c.1800T>C | XP_011530858.1:p.Val600= | |
| XM_011532557.1:c.453T>C | XP_011530859.1:p.Val151= | |
| NM_001320810.1:c.696T>C | NP_001307739.1:p.Val232= | |
| XM_011532555.2:c.1800T>C | XP_011530857.1:p.Val600= | |
| XM_011532556.2:c.1800T>C | XP_011530858.1:p.Val600= | |
| XM_011532557.2:c.453T>C | XP_011530859.1:p.Val151= | |
| XM_017003403.2:c.1800T>C | XP_016858892.1:p.Val600= | |
| XM_017003404.2:c.1800T>C | XP_016858893.1:p.Val600= | |
| XM_017003405.2:c.1800T>C | XP_016858894.1:p.Val600= | |
| XM_017003406.2:c.696T>C | XP_016858895.1:p.Val232= | |
| XM_024452714.1:c.1800T>C | XP_024308482.1:p.Val600= | |
| XM_024452715.1:c.1800T>C | XP_024308483.1:p.Val600= | |
| XM_024452716.1:c.1800T>C | XP_024308484.1:p.Val600= | |
| NM_001164883.2:c.1800T>C | NP_001158355.1:p.Val600= | |
| NM_001282597.3:c.1800T>C MANE Select | NP_001269526.1:p.Val600= | |
| NM_001282598.2:c.1902T>C | NP_001269527.1:p.Val634= | |
| NM_001282599.2:c.837T>C | NP_001269528.1:p.Val279= | |
| NM_001282600.2:c.696T>C | NP_001269529.1:p.Val232= | |
| NM_001320810.2:c.696T>C | NP_001307739.1:p.Val232= | |
| NM_004389.4:c.1800T>C | NP_004380.2:p.Val600= | |
| NM_001399737.1:c.1800T>C | NP_001386666.1:p.Val600= |