COSMIC:
COSM4985517 (not active)
Revel Score:
ENST00000350881 (MANE Select)
0.300
ENST00000511733
0.300
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.22729503 (NFE)
Genomes Max Group AF
0.22173967 (NFE)
Exomes Max Group AF
0.22747427 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.80065442G>C , CM000667.2:g.80065442G>C | GRCh38 |
| NC_000005.9:g.79361265G>C , CM000667.1:g.79361265G>C | GRCh37 |
| NC_000005.8:g.79397021G>C | NCBI36 |
| NG_047084.1:g.79132G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000350881.6:c.1159G>C MANE Select | ENSP00000339730.2:p.Ala387Pro | |
| ENST00000511733.1:c.886G>C | ENSP00000422298.1:p.Ala296Pro | |
| NM_001306212.1:c.886G>C | NP_001293141.1:p.Ala296Pro | |
| NM_001306213.1:c.886G>C | NP_001293142.1:p.Ala296Pro | |
| NM_001306214.1:c.886G>C | NP_001293143.1:p.Ala296Pro | |
| NM_003248.4:c.1159G>C | NP_003239.2:p.Ala387Pro | |
| NM_003248.5:c.1159G>C | NP_003239.2:p.Ala387Pro | |
| XM_017009798.2:c.1159G>C | XP_016865287.1:p.Ala387Pro | |
| XM_017009799.2:c.1159G>C | XP_016865288.1:p.Ala387Pro | |
| XR_002956176.1:n.1350G>C | ||
| NM_003248.6:c.1159G>C MANE Select | NP_003239.2:p.Ala387Pro | |
| NM_001306212.2:c.886G>C | NP_001293141.1:p.Ala296Pro | |
| NM_001306213.2:c.886G>C | NP_001293142.1:p.Ala296Pro | |
| NM_001306214.2:c.886G>C | NP_001293143.1:p.Ala296Pro |