Linked Data
ClinVar Variation Id:
932263
ClinVar RCV Id:
RCV001199993
dbSNP Id:
rs1877430029
ERepo:
CA16020757/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102894834T>A , CM000674.2:g.102894834T>A | GRCh38 |
| NC_000012.11:g.103288612T>A , CM000674.1:g.103288612T>A | GRCh37 |
| NC_000012.10:g.101812742T>A | NCBI36 |
| NG_008690.1:g.27769A>T | |
| NG_008690.2:g.68577A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.253A>T MANE Select | ENSP00000448059.1:p.Lys85Ter | |
| ENST00000307000.7:c.238A>T | ENSP00000303500.2:p.Lys80Ter | |
| ENST00000546844.1:c.253A>T | ENSP00000446658.1:p.Lys85Ter | |
| ENST00000548677.2:n.340A>T | ||
| ENST00000548928.1:n.175A>T | ||
| ENST00000549111.5:n.349A>T | ||
| ENST00000550978.6:c.237A>T | ||
| ENST00000551337.5:c.253A>T | ENSP00000447620.1:p.Lys85Ter | |
| ENST00000551988.5:n.342A>T | ||
| ENST00000553106.5:c.253A>T | ENSP00000448059.1:p.Lys85Ter | |
| NM_000277.1:c.253A>T | NP_000268.1:p.Lys85Ter | |
| XM_011538422.1:c.253A>T | XP_011536724.1:p.Lys85Ter | |
| NM_000277.2:c.253A>T | NP_000268.1:p.Lys85Ter | |
| NM_001354304.1:c.253A>T | NP_001341233.1:p.Lys85Ter | |
| XM_017019370.2:c.253A>T | XP_016874859.1:p.Lys85Ter | |
| NM_000277.3:c.253A>T MANE Select | NP_000268.1:p.Lys85Ter | |
| NM_001354304.2:c.253A>T | NP_001341233.1:p.Lys85Ter |