Linked Data
ClinVar Variation Id:
542180
ClinVar RCV Id:
RCV002534177
dbSNP Id:
rs1018358556
gnomAD v2:
12-57882836-C-A
gnomAD v4:
12-57489053-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57489053C>A , CM000674.2:g.57489053C>A | GRCh38 |
| NC_000012.11:g.57882836C>A , CM000674.1:g.57882836C>A | GRCh37 |
| NC_000012.10:g.56169103C>A | NCBI36 |
| NG_034077.1:g.6101C>A | |
| NG_023205.2:g.4762G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262027.10:c.144C>A MANE Select | ENSP00000262027.5:p.Val48= | |
| ENST00000262027.9:c.144C>A | ENSP00000262027.5:p.Val48= | |
| ENST00000447721.6:n.132+854C>A | ||
| ENST00000537638.6:c.144C>A | ENSP00000446168.2:p.Val48= | |
| ENST00000545888.6:c.144C>A | ENSP00000439307.2:p.Val48= | |
| ENST00000546481.1:n.173C>A | ||
| ENST00000547062.5:n.167C>A | ||
| ENST00000547501.5:c.144C>A | ENSP00000447145.1:p.Val48= | |
| ENST00000548146.1:n.485C>A | ||
| ENST00000548674.5:n.114C>A | ||
| ENST00000548714.5:n.167C>A | ||
| ENST00000549074.5:c.144C>A | ENSP00000447258.1:p.Val48= | |
| ENST00000550449.5:n.179C>A | ||
| ENST00000551431.5:c.144C>A | ENSP00000446729.1:p.Val48= | |
| ENST00000551842.5:n.167C>A | ||
| ENST00000551892.1:c.109+854C>A | ENSP00000450018.1:n.109+854C>A | |
| ENST00000552007.5:c.144C>A | ENSP00000448576.1:p.Val48= | |
| ENST00000553123.1:n.368C>A | ||
| ENST00000553162.5:n.167C>A | ||
| ENST00000628866.2:c.144C>A | ENSP00000486738.1:p.Val48= | |
| ENST00000630571.2:c.144C>A | ENSP00000485951.1:p.Val48= | |
| ENST00000630803.1:c.109+854C>A | ENSP00000486356.1:n.109+854C>A | |
| NM_004990.3:c.144C>A | NP_004981.2:p.Val48= | |
| XM_006719398.2:c.-483C>A | XP_006719461.1:n.-483C>A | |
| XM_011538353.1:c.144C>A | XP_011536655.1:p.Val48= | |
| XM_006719398.4:c.-483C>A | XP_006719461.1:n.-483C>A | |
| XR_001748704.2:n.167C>A | ||
| XR_002957327.1:n.167C>A | ||
| NM_004990.4:c.144C>A MANE Select | NP_004981.2:p.Val48= |