Linked Data
ClinVar Variation Id:
2444372
ClinVar RCV Id:
RCV003153170
dbSNP Id:
rs749261204
ExAC:
2:29294078 CTG / C
gnomAD v2:
2-29294078-CTG-C
gnomAD v4:
2-29071212-CTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29071214_29071215del , CM000664.2:g.29071214_29071215del | GRCh38 |
| NC_000002.11:g.29294080_29294081del , CM000664.1:g.29294080_29294081del | GRCh37 |
| NC_000002.10:g.29147584_29147585del | NCBI36 |
| NG_021427.1:g.8048_8049del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331664.6:c.3048_3049del MANE Select | ENSP00000332809.4:p.Tyr1016Ter | |
| ENST00000331664.5:c.3048_3049del | ENSP00000332809.4:p.Tyr1016Ter | |
| NM_001029883.2:c.3048_3049del | NP_001025054.1:p.Tyr1016Ter | |
| XM_011532826.1:c.3048_3049del | XP_011531128.1:p.Tyr1016Ter | |
| XR_939901.1:n.185+2047_185+2048del | ||
| XR_939902.1:n.173+2059_173+2060del | ||
| NM_001029883.3:c.3048_3049del MANE Select | NP_001025054.1:p.Tyr1016Ter |