Linked Data
ClinVar Variation Id:
222919
ClinVar RCV Id:
RCV000235526
dbSNP Id:
rs747777227
ExAC:
6:49425464 G / GT
gnomAD v2:
6-49425464-G-GT
gnomAD v3:
6-49457751-G-GT
gnomAD v4:
6-49457751-G-GT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49457752dup , CM000668.2:g.49457752dup | GRCh38 |
| NC_000006.11:g.49425465dup , CM000668.1:g.49425465dup | GRCh37 |
| NC_000006.10:g.49533424dup | NCBI36 |
| NG_007100.1:g.10388dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274813.4:c.692dup MANE Select | ENSP00000274813.3:p.Tyr231Ter | |
| ENST00000274813.3:c.692dup | ENSP00000274813.3:p.Tyr231Ter | |
| NM_000255.3:c.692dup | NP_000246.2:p.Tyr231Ter | |
| XM_005249143.2:c.692dup | XP_005249200.1:p.Tyr231Ter | |
| XM_005249143.3:c.692dup | XP_005249200.1:p.Tyr231Ter | |
| NM_000255.4:c.692dup MANE Select | NP_000246.2:p.Tyr231Ter |