ClinVar RCV:
ClinVar Variation:
dbSNP:
Revel Score:
ENST00000355349 (MANE Select)
0.842
ENST00000544444
0.842
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23425980C>G , CM000676.2:g.23425980C>G | GRCh38 |
| NC_000014.8:g.23895189C>G , CM000676.1:g.23895189C>G | GRCh37 |
| NC_000014.7:g.22965029C>G | NCBI36 |
| NG_007884.1:g.14682G>C , LRG_384:g.14682G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.2146G>C MANE Select | ENSP00000347507.3:p.Gly716Arg | |
| ENST00000355349.3:c.2146G>C | ENSP00000347507.3:p.Gly716Arg | |
| NM_000257.3:c.2146G>C | NP_000248.2:p.Gly716Arg | |
| XR_245686.3:n.2252G>C | ||
| XM_017021340.1:c.2146G>C | XP_016876829.1:p.Gly716Arg | |
| NM_000257.4:c.2146G>C MANE Select | NP_000248.2:p.Gly716Arg |