Linked Data
ClinVar Variation Id:
431955
ClinVar RCV Id:
RCV000497452
dbSNP Id:
rs780249576
ExAC:
2:233406129 GT / G
gnomAD v2:
2-233406129-GT-G
gnomAD v3:
2-232541419-GT-G
gnomAD v4:
2-232541419-GT-G
COSMIC:
COSM1740995
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232541420del , CM000664.2:g.232541420del | GRCh38 |
| NC_000002.11:g.233406130del , CM000664.1:g.233406130del | GRCh37 |
| NC_000002.10:g.233114374del | NCBI36 |
| NG_012954.1:g.6694del | |
| NG_012954.2:g.6729del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000651502.1:c.397del MANE Select | ENSP00000498757.1:p.Ser133ProfsTer? | |
| ENST00000389492.3:c.350+709del | ENSP00000374143.3:n.350+709del | |
| ENST00000389494.7:c.397del | ENSP00000374145.3:p.Ser133ProfsTer? | |
| ENST00000485094.1:n.418del | ||
| NM_005199.4:c.397del | NP_005190.4:p.Ser133ProfsTer? | |
| NM_005199.5:c.397del MANE Select | NP_005190.4:p.Ser133ProfsTer? |