dbSNP:
gnomAD v2:
Revel Score:
ENST00000375631 (MANE Select)
0.227
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31860170G>C , CM000668.2:g.31860170G>C | GRCh38 |
| NC_000006.11:g.31827947G>C , CM000668.1:g.31827947G>C | GRCh37 |
| NC_000006.10:g.31935926G>C | NCBI36 |
| NG_008201.1:g.7763C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375631.5:c.893C>G MANE Select | ENSP00000364782.4:p.Ala298Gly | |
| ENST00000677054.1:n.2136C>G | ||
| ENST00000677512.1:n.1175C>G | ||
| ENST00000678869.1:n.1481C>G | ||
| ENST00000375631.4:c.893C>G | ENSP00000364782.4:p.Ala298Gly | |
| ENST00000480384.1:n.1096C>G | ||
| ENST00000491768.5:c.*3C>G | ENSP00000433127.1:n.*3C>G | |
| ENST00000495807.1:n.2201C>G | ||
| NM_000434.3:c.893C>G | NP_000425.1:p.Ala298Gly | |
| NM_000434.4:c.893C>G MANE Select | NP_000425.1:p.Ala298Gly |