Linked Data
ClinVar Variation Id:
39476
ClinVar RCV Id:
RCV000032672
dbSNP Id:
rs655423
PubMed:
PMID:23273567
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72234616G>A , CM000673.2:g.72234616G>A | GRCh38 |
| NC_000011.9:g.71945660G>A , CM000673.1:g.71945660G>A | GRCh37 |
| NC_000011.8:g.71623308G>A | NCBI36 |
| NG_023253.1:g.14779G>A | |
| NG_023253.2:g.14779G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298229.7:c.2415+1G>A MANE Select | ENSP00000298229.2:n.2415+1G>A | |
| ENST00000298229.6:c.2415+1G>A | ENSP00000298229.2:n.2415+1G>A | |
| ENST00000535985.1:c.268+1G>A | ||
| ENST00000538751.5:c.1689+1G>A | ENSP00000444619.1:n.1689+1G>A | |
| ENST00000541303.5:n.1021+1G>A | ||
| ENST00000541756.5:c.2217+1G>A | ENSP00000446360.2:n.2217+1G>A | |
| ENST00000545355.5:n.700+1G>A | ||
| NM_001567.3:c.2415+1G>A | NP_001558.3:n.2415+1G>A | |
| XM_005273978.3:c.2481+1G>A | XP_005274035.1:n.2481+1G>A | |
| XM_005273979.3:c.2481+1G>A | XP_005274036.1:n.2481+1G>A | |
| XM_011544999.1:c.2415+1G>A | XP_011543301.1:n.2415+1G>A | |
| XM_011545000.1:c.2481+1G>A | XP_011543302.1:n.2481+1G>A | |
| XM_005273979.4:c.2481+1G>A | XP_005274036.1:n.2481+1G>A | |
| XM_011544999.2:c.2415+1G>A | XP_011543301.1:n.2415+1G>A | |
| XM_024448501.1:c.2613+1G>A | XP_024304269.1:n.2613+1G>A | |
| XM_024448502.1:c.2613+1G>A | XP_024304270.1:n.2613+1G>A | |
| XM_024448503.1:c.2583+1G>A | XP_024304271.1:n.2583+1G>A | |
| XM_024448504.1:c.2547+1G>A | XP_024304272.1:n.2547+1G>A | |
| XM_024448505.1:c.2613+1G>A | XP_024304273.1:n.2613+1G>A | |
| NM_001567.4:c.2415+1G>A MANE Select | NP_001558.3:n.2415+1G>A |