Linked Data
ClinVar Variation Id:
1540267
ClinVar RCV Id:
RCV002154995
dbSNP Id:
rs1206919819
gnomAD v2:
1-40557853-G-T
gnomAD v4:
1-40092181-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40092181G>T , CM000663.2:g.40092181G>T | GRCh38 |
| NC_000001.10:g.40557853G>T , CM000663.1:g.40557853G>T | GRCh37 |
| NC_000001.9:g.40330440G>T | NCBI36 |
| NG_009192.1:g.10290C>A , LRG_690:g.10290C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372779.9:c.*71-9C>A | ENSP00000361865.5:n.*71-9C>A | |
| ENST00000433473.8:c.232-9C>A | ENSP00000394863.4:n.232-9C>A | |
| ENST00000439754.6:c.235-9C>A | ENSP00000403207.2:n.235-9C>A | |
| ENST00000449045.7:c.125-2669C>A | ENSP00000392293.2:n.125-2669C>A | |
| ENST00000526547.2:c.515-9C>A | ||
| ENST00000527311.7:c.234+217C>A | ENSP00000436695.3:n.234+217C>A | |
| ENST00000530704.6:c.235-9C>A | ENSP00000431655.1:n.235-9C>A | |
| ENST00000641083.1:c.213-9C>A | ||
| ENST00000641236.1:n.463C>A | ||
| ENST00000641319.1:c.235-9C>A | ENSP00000493128.1:n.235-9C>A | |
| ENST00000641471.1:c.322-9C>A | ENSP00000493146.1:n.322-9C>A | |
| ENST00000641548.1:c.*87-9C>A | ENSP00000492984.1:n.*87-9C>A | |
| ENST00000641691.1:c.*87-9C>A | ENSP00000492910.1:n.*87-9C>A | |
| ENST00000641924.1:c.124+4934C>A | ENSP00000493063.1:n.124+4934C>A | |
| ENST00000642050.2:c.235-9C>A MANE Select | ENSP00000493153.1:n.235-9C>A | |
| ENST00000372779.8:c.322-9C>A | ENSP00000361865.4:n.322-9C>A | |
| ENST00000433473.7:c.235-9C>A | ENSP00000394863.3:n.235-9C>A | |
| ENST00000449045.6:c.125-2669C>A | ENSP00000392293.2:n.125-2669C>A | |
| ENST00000526547.1:c.85-9C>A | ENSP00000436481.1:n.85-9C>A | |
| ENST00000527311.6:c.125-124C>A | ENSP00000436695.2:n.125-124C>A | |
| ENST00000529905.5:c.235-9C>A | ENSP00000432053.1:n.235-9C>A | |
| ENST00000530704.5:c.235-9C>A | ENSP00000431655.1:n.235-9C>A | |
| NM_000310.3:c.235-9C>A , LRG_690t1:c.235-9C>A | NP_000301.1:n.235-9C>A | |
| NM_001142604.1:c.125-2669C>A | NP_001136076.1:n.125-2669C>A | |
| XM_005271008.1:c.235-9C>A | XP_005271065.1:n.235-9C>A | |
| NM_001363695.1:c.235-9C>A | NP_001350624.1:n.235-9C>A | |
| NM_000310.4:c.235-9C>A MANE Select | NP_000301.1:n.235-9C>A | |
| NM_001142604.2:c.125-2669C>A | NP_001136076.1:n.125-2669C>A | |
| NM_001363695.2:c.235-9C>A | NP_001350624.1:n.235-9C>A |