COSMIC:
COSM1410856 (not active)
COSM1410857 (not active)
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.44094101 (AFR)
Genomes Max Group AF
0.43435125 (AFR)
Exomes Max Group AF
0.44541025 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.25078910T>C , CM000682.2:g.25078910T>C | GRCh38 |
| NC_000020.10:g.25059546T>C , CM000682.1:g.25059546T>C | GRCh37 |
| NC_000020.9:g.25007546T>C | NCBI36 |
| NG_008101.1:g.8222A>G | |
| NG_008101.2:g.8222A>G | |
| NG_008101.3:g.8272A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376709.9:c.546A>G MANE Select | ENSP00000365899.3:p.Ala182= | |
| ENST00000376707.4:c.546A>G | ENSP00000365897.3:p.Ala182= | |
| ENST00000376709.8:c.546A>G | ENSP00000365899.3:p.Ala182= | |
| ENST00000409285.6:c.546A>G | ENSP00000386612.2:p.Ala182= | |
| ENST00000409958.6:c.546A>G | ENSP00000387069.2:p.Ala182= | |
| ENST00000429762.7:c.546A>G | ENSP00000401690.3:p.Ala182= | |
| ENST00000444511.6:c.546A>G | ENSP00000387720.2:p.Ala182= | |
| NM_001256271.1:c.546A>G | NP_001243200.1:p.Ala182= | |
| NM_001256272.1:c.546A>G | NP_001243201.1:p.Ala182= | |
| NM_014588.5:c.546A>G | NP_055403.2:p.Ala182= | |
| NM_199425.2:c.546A>G | NP_955457.1:p.Ala182= | |
| NR_045948.1:n.829A>G | ||
| NR_045951.1:n.829A>G | ||
| XM_017027837.1:c.546A>G | XP_016883326.1:p.Ala182= | |
| XM_017027838.1:c.546A>G | XP_016883327.1:p.Ala182= | |
| NM_014588.6:c.546A>G MANE Select | NP_055403.2:p.Ala182= | |
| NR_165181.1:n.304A>G | ||
| NM_001256271.2:c.546A>G | NP_001243200.1:p.Ala182= | |
| NM_001256272.2:c.546A>G | NP_001243201.1:p.Ala182= | |
| NM_199425.3:c.546A>G | NP_955457.1:p.Ala182= | |
| NR_045948.2:n.591A>G | ||
| NR_045951.2:n.591A>G | ||
| NR_165181.2:n.186A>G |