Linked Data
ClinVar Variation Id:
45054
ClinVar RCV Id:
RCV000038194
dbSNP Id:
rs397517015
gnomAD v2:
12-32974436-C-A
gnomAD v4:
12-32821502-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32821502C>A , CM000674.2:g.32821502C>A | GRCh38 |
| NC_000012.11:g.32974436C>A , CM000674.1:g.32974436C>A | GRCh37 |
| NC_000012.10:g.32865703C>A | NCBI36 |
| NG_009000.1:g.80345G>T , LRG_398:g.80345G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000700555.2:n.370G>T | ||
| ENST00000700559.2:c.1867G>T | ENSP00000515065.2:p.Glu623Ter | |
| ENST00000700563.2:c.1867G>T | ENSP00000515066.2:p.Glu623Ter | |
| ENST00000546498.2:n.554G>T | ||
| ENST00000549461.2:n.406G>T | ||
| ENST00000700555.1:c.298G>T | ENSP00000515062.1:p.Glu100Ter | |
| ENST00000700556.1:c.338G>T | ||
| ENST00000700558.1:n.81G>T | ||
| ENST00000700559.1:c.1082G>T | ||
| ENST00000700560.1:n.1082G>T | ||
| ENST00000700561.1:n.1208G>T | ||
| ENST00000700562.1:n.405G>T | ||
| ENST00000700563.1:c.1821G>T | ||
| ENST00000700564.1:n.1871G>T | ||
| ENST00000070846.11:c.1999G>T | ENSP00000070846.6:p.Glu667Ter | |
| ENST00000340811.9:c.1867G>T MANE Select | ENSP00000342800.5:p.Glu623Ter | |
| ENST00000070846.10:c.1999G>T | ENSP00000070846.6:p.Glu667Ter | |
| ENST00000340811.8:c.1867G>T | ENSP00000342800.4:p.Glu623Ter | |
| ENST00000546498.1:n.554G>T | ||
| ENST00000549461.1:n.313G>T | ||
| ENST00000552612.5:n.288G>T | ||
| ENST00000613243.1:c.1999G>T | ENSP00000478295.1:p.Glu667Ter | |
| NM_001005242.2:c.1867G>T | NP_001005242.2:p.Glu623Ter | |
| NM_004572.3:c.1999G>T , LRG_398t1:c.1999G>T | NP_004563.2:p.Glu667Ter | |
| NM_001005242.3:c.1867G>T MANE Select | NP_001005242.2:p.Glu623Ter | |
| NM_004572.4:c.1999G>T | NP_004563.2:p.Glu667Ter |