dbSNP:
gnomAD v4:
Revel Score:
ENST00000360608
0.519
ENST00000389970
0.519
ENST00000413640
0.519
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42129185C>G , CM000684.2:g.42129185C>G | GRCh38 |
| NC_000022.10:g.42525187C>G , CM000684.1:g.42525187C>G | GRCh37 |
| NC_000022.9:g.40855131C>G | NCBI36 |
| NG_008376.3:g.5807G>C | |
| NG_008376.4:g.6626G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360124.10:c.353-241G>C | ENSP00000353241.6:n.353-241G>C | |
| ENST00000645361.2:c.353G>C MANE Select | ENSP00000496150.1:p.Gly118Ala | |
| ENST00000359033.4:c.353-241G>C | ENSP00000351927.4:n.353-241G>C | |
| ENST00000360124.9:c.173-241G>C | ENSP00000353241.5:n.173-241G>C | |
| ENST00000360608.9:c.353G>C | ENSP00000353820.5:p.Gly118Ala | |
| ENST00000389970.7:c.287G>C | ENSP00000374620.4:p.Gly96Ala | |
| ENST00000488442.1:n.1077G>C | ||
| NM_000106.5:c.353G>C | NP_000097.3:p.Gly118Ala | |
| NM_001025161.2:c.353-241G>C | NP_001020332.2:n.353-241G>C | |
| XM_011529966.1:c.353G>C | XP_011528268.1:p.Gly118Ala | |
| XM_011529967.1:c.353G>C | XP_011528269.1:p.Gly118Ala | |
| XM_011529968.1:c.353G>C | XP_011528270.1:p.Gly118Ala | |
| XM_011529969.1:c.210G>C | XP_011528271.1:p.Arg70Ser | |
| XM_011529970.1:c.353-241G>C | XP_011528272.1:n.353-241G>C | |
| XM_011529971.1:c.210G>C | XP_011528273.1:p.Arg70Ser | |
| XM_011529972.1:c.353G>C | XP_011528274.1:p.Gly118Ala | |
| NM_000106.6:c.353G>C MANE Select | NP_000097.3:p.Gly118Ala | |
| NM_001025161.3:c.353-241G>C | NP_001020332.2:n.353-241G>C |