ClinVar RCV:
ClinVar Variation:
dbSNP:
Revel Score:
ENST00000330258
0.094
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.64190116C>G , CM000685.2:g.64190116C>G | GRCh38 |
| NC_000023.10:g.63409996C>G , CM000685.1:g.63409996C>G | GRCh37 |
| NC_000023.9:g.63326721C>G | NCBI36 |
| NG_021345.1:g.20629G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374869.8:c.3171G>C MANE Select | ENSP00000364003.4:p.Glu1057Asp | |
| ENST00000330258.3:c.3171G>C | ENSP00000329117.3:p.Glu1057Asp | |
| ENST00000374869.7:c.2357+814G>C | ENSP00000364003.3:n.2357+814G>C | |
| NM_152424.3:c.3171G>C | NP_689637.3:p.Glu1057Asp | |
| XM_011530858.1:c.3171G>C | XP_011529160.1:p.Glu1057Asp | |
| NM_152424.4:c.3171G>C MANE Select | NP_689637.3:p.Glu1057Asp |