COSMIC:
COSM6387790 (not active)
Revel Score:
ENST00000446859 (MANE Select)
0.043
ENST00000522830
0.043
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.70276405 (EAS)
Genomes Max Group AF
0.66602392 (EAS)
Exomes Max Group AF
0.70587208 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.169800667T>C , CM000665.2:g.169800667T>C | GRCh38 |
| NC_000003.11:g.169518455T>C , CM000665.1:g.169518455T>C | GRCh37 |
| NC_000003.10:g.171001149T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000446859.7:c.745A>G MANE Select | ENSP00000414635.1:p.Ser249Gly | |
| ENST00000446859.5:c.745A>G | ENSP00000414635.1:p.Ser249Gly | |
| ENST00000522080.5:n.722A>G | ||
| ENST00000522526.6:c.657+3386A>G | ENSP00000429278.2:n.657+3386A>G | |
| ENST00000522596.6:n.727A>G | ||
| ENST00000522830.5:c.562A>G | ENSP00000429593.1:p.Ser188Gly | |
| ENST00000524054.5:n.593A>G | ||
| ENST00000524327.5:n.545A>G | ||
| NM_001172779.1:c.745A>G | NP_001166250.1:p.Ser249Gly | |
| NM_001172780.1:c.745A>G | NP_001166251.1:p.Ser249Gly | |
| NM_153353.4:c.657+3386A>G | NP_699184.2:n.657+3386A>G | |
| XM_005247133.2:c.562A>G | XP_005247190.1:p.Ser188Gly | |
| XM_006713508.2:c.691A>G | XP_006713571.1:p.Ser231Gly | |
| XM_011512442.1:c.742A>G | XP_011510744.1:p.Ser248Gly | |
| NM_001363888.1:c.562A>G | NP_001350817.1:p.Ser188Gly | |
| XM_006713508.4:c.691A>G | XP_006713571.1:p.Ser231Gly | |
| XM_011512442.2:c.742A>G | XP_011510744.1:p.Ser248Gly | |
| XM_017005746.1:c.559A>G | XP_016861235.1:p.Ser187Gly | |
| NM_001172779.2:c.745A>G MANE Select | NP_001166250.1:p.Ser249Gly | |
| NM_001172780.2:c.745A>G | NP_001166251.1:p.Ser249Gly | |
| NM_001363888.2:c.562A>G | NP_001350817.1:p.Ser188Gly | |
| NM_001370608.1:c.559A>G | NP_001357537.1:p.Ser187Gly | |
| NM_001370609.1:c.562A>G | NP_001357538.1:p.Ser188Gly | |
| NM_153353.5:c.657+3386A>G | NP_699184.2:n.657+3386A>G |