COSMIC:
COSM147339 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.51568464 (EAS)
Genomes Max Group AF
0.54701653 (EAS)
Exomes Max Group AF
0.50978967 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121577381T>G , CM000673.2:g.121577381T>G | GRCh38 |
| NC_000011.9:g.121448090T>G , CM000673.1:g.121448090T>G | GRCh37 |
| NC_000011.8:g.120953300T>G | NCBI36 |
| NG_023313.1:g.130130T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260197.12:c.3561T>G MANE Select | ENSP00000260197.6:p.Ser1187= | |
| ENST00000260197.11:c.3561T>G | ENSP00000260197.6:p.Ser1187= | |
| ENST00000525532.5:c.393T>G | ENSP00000434634.1:p.Ser131= | |
| ENST00000532694.5:c.99T>G | ENSP00000432131.1:p.Ser33= | |
| ENST00000534286.5:c.291T>G | ENSP00000436447.1:p.Ser97= | |
| NM_003105.5:c.3561T>G | NP_003096.1:p.Ser1187= | |
| XM_011542963.1:c.3447T>G | XP_011541265.1:p.Ser1149= | |
| XM_011542964.1:c.3561T>G | XP_011541266.1:p.Ser1187= | |
| XM_011542965.1:c.2022T>G | XP_011541267.1:p.Ser674= | |
| XM_011542966.1:c.921T>G | XP_011541268.1:p.Ser307= | |
| XM_011542967.1:c.393T>G | XP_011541269.1:p.Ser131= | |
| XM_011542963.3:c.3447T>G | XP_011541265.1:p.Ser1149= | |
| XM_011542965.3:c.2022T>G | XP_011541267.1:p.Ser674= | |
| XM_011542967.3:c.393T>G | XP_011541269.1:p.Ser131= | |
| XM_017018169.2:c.3249T>G | XP_016873658.1:p.Ser1083= | |
| XM_017018170.2:c.3036T>G | XP_016873659.1:p.Ser1012= | |
| XM_017018171.1:c.3561T>G | XP_016873660.1:p.Ser1187= | |
| XM_017018172.2:c.921T>G | XP_016873661.1:p.Ser307= | |
| NM_003105.6:c.3561T>G MANE Select | NP_003096.2:p.Ser1187= |