COSMIC:
COSM4132740 (not active)
Revel Score:
ENST00000245912
0.285
ENST00000326176
0.285
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.98070335 (AFR)
Genomes Max Group AF
0.97759247 (AFR)
Exomes Max Group AF
0.9790712 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6665009T>C , CM000681.2:g.6665009T>C | GRCh38 |
| NC_000019.9:g.6665020T>C , CM000681.1:g.6665020T>C | GRCh37 |
| NC_000019.8:g.6616020T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000675206.1:c.640A>G MANE Select | ENSP00000502837.1:p.Lys214Glu | |
| ENST00000245912.7:c.532A>G | ENSP00000245912.3:p.Lys178Glu | |
| ENST00000599359.1:c.640A>G | ENSP00000469049.1:p.Lys214Glu | |
| NM_003807.3:c.640A>G | NP_003798.2:p.Lys214Glu | |
| NM_172014.2:c.532A>G | NP_742011.2:p.Lys178Glu | |
| XM_005259670.2:c.532A>G | XP_005259727.1:p.Lys178Glu | |
| XM_011528398.1:c.332+2104A>G | XP_011526700.1:n.332+2104A>G | |
| XR_936212.1:n.812+2104A>G | ||
| NM_003807.4:c.640A>G | NP_003798.2:p.Lys214Glu | |
| NM_172014.3:c.532A>G | NP_742011.2:p.Lys178Glu | |
| XM_017027417.1:c.640A>G | XP_016882906.1:p.Lys214Glu | |
| XM_017027418.1:c.298+2104A>G | XP_016882907.1:n.298+2104A>G | |
| XR_001753777.1:n.824+2104A>G | ||
| XR_936212.2:n.824+2104A>G | ||
| NM_001376887.1:c.640A>G MANE Select | NP_001363816.1:p.Lys214Glu | |
| NM_003807.5:c.640A>G | NP_003798.2:p.Lys214Glu |