Linked Data
ClinVar Variation Id:
492860
ClinVar RCV Id:
RCV000582390
dbSNP Id:
rs770293321
ExAC:
18:58039518 CTG / C
gnomAD v2:
18-58039518-CTG-C
gnomAD v3:
18-60372285-CTG-C
gnomAD v4:
18-60372285-CTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.60372287_60372288del , CM000680.2:g.60372287_60372288del | GRCh38 |
| NC_000018.9:g.58039520_58039521del , CM000680.1:g.58039520_58039521del | GRCh37 |
| NC_000018.8:g.56190500_56190501del | NCBI36 |
| NG_016441.1:g.5482_5483del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000299766.5:c.63_64del MANE Select | ENSP00000299766.3:p.Tyr21Ter | |
| ENST00000299766.4:c.63_64del | ENSP00000299766.3:p.Tyr21Ter | |
| NM_005912.2:c.63_64del | NP_005903.2:p.Tyr21Ter | |
| NM_005912.3:c.63_64del MANE Select | NP_005903.2:p.Tyr21Ter |