Linked Data
ClinVar Variation Id:
1506338
ClinVar RCV Id:
RCV002035963
dbSNP Id:
rs1436942223
gnomAD v3:
14-21301042-G-C
gnomAD v4:
14-21301042-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.21301042G>C , CM000676.2:g.21301042G>C | GRCh38 |
| NC_000014.8:g.21769201G>C , CM000676.1:g.21769201G>C | GRCh37 |
| NC_000014.7:g.20839041G>C | NCBI36 |
| NG_008933.1:g.18066G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400017.7:c.295G>C MANE Select | ENSP00000382895.2:p.Glu99Gln | |
| ENST00000400017.6:c.295G>C | ENSP00000382895.2:p.Glu99Gln | |
| ENST00000556336.5:c.295G>C | ENSP00000450445.1:p.Glu99Gln | |
| ENST00000557771.5:c.295G>C | ENSP00000451219.1:p.Glu99Gln | |
| NM_020366.3:c.295G>C | NP_065099.3:p.Glu99Gln | |
| XM_011536983.1:c.295G>C | XP_011535285.1:p.Glu99Gln | |
| NM_020366.4:c.295G>C MANE Select | NP_065099.3:p.Glu99Gln |