Linked Data
ClinVar Variation Id:
465415
ClinVar RCV Id:
RCV000544945
dbSNP Id:
rs1265044710
gnomAD v2:
1-40546068-C-A
gnomAD v4:
1-40080396-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.40080396C>A , CM000663.2:g.40080396C>A | GRCh38 |
| NC_000001.10:g.40546068C>A , CM000663.1:g.40546068C>A | GRCh37 |
| NC_000001.9:g.40318655C>A | NCBI36 |
| NG_009192.1:g.22075G>T , LRG_690:g.22075G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433473.8:c.624+1G>T | ENSP00000394863.4:n.624+1G>T | |
| ENST00000439754.6:c.627+1G>T | ENSP00000403207.2:n.627+1G>T | |
| ENST00000449045.7:c.318+1G>T | ENSP00000392293.2:n.318+1G>T | |
| ENST00000527311.7:c.396+1G>T | ENSP00000436695.3:n.396+1G>T | |
| ENST00000530076.6:c.-31+1G>T | ENSP00000434007.1:n.-31+1G>T | |
| ENST00000530704.6:c.*250+1G>T | ENSP00000431655.1:n.*250+1G>T | |
| ENST00000641083.1:c.605+1G>T | ||
| ENST00000641236.1:n.864+1G>T | ||
| ENST00000641319.1:c.627+1G>T | ENSP00000493128.1:n.627+1G>T | |
| ENST00000641381.1:c.149-3483G>T | ||
| ENST00000641471.1:c.714+1G>T | ENSP00000493146.1:n.714+1G>T | |
| ENST00000641691.1:c.*479+1G>T | ENSP00000492910.1:n.*479+1G>T | |
| ENST00000641924.1:c.*56+1G>T | ENSP00000493063.1:n.*56+1G>T | |
| ENST00000642050.2:c.627+1G>T MANE Select | ENSP00000493153.1:n.627+1G>T | |
| ENST00000372779.8:c.714+1G>T | ENSP00000361865.4:n.714+1G>T | |
| ENST00000433473.7:c.627+1G>T | ENSP00000394863.3:n.627+1G>T | |
| ENST00000439754.5:c.312+1G>T | ENSP00000403207.1:n.312+1G>T | |
| ENST00000449045.6:c.318+1G>T | ENSP00000392293.2:n.318+1G>T | |
| ENST00000527311.6:c.402+1G>T | ENSP00000436695.2:n.402+1G>T | |
| ENST00000529905.5:c.627+1G>T | ENSP00000432053.1:n.627+1G>T | |
| ENST00000530076.5:c.-31+1G>T | ENSP00000434007.1:n.-31+1G>T | |
| ENST00000530704.5:c.*250+1G>T | ENSP00000431655.1:n.*250+1G>T | |
| NM_000310.3:c.627+1G>T , LRG_690t1:c.627+1G>T | NP_000301.1:n.627+1G>T | |
| NM_001142604.1:c.318+1G>T | NP_001136076.1:n.318+1G>T | |
| XM_005271008.1:c.627+1G>T | XP_005271065.1:n.627+1G>T | |
| NM_001363695.1:c.627+1G>T | NP_001350624.1:n.627+1G>T | |
| NM_000310.4:c.627+1G>T MANE Select | NP_000301.1:n.627+1G>T | |
| NM_001142604.2:c.318+1G>T | NP_001136076.1:n.318+1G>T | |
| NM_001363695.2:c.627+1G>T | NP_001350624.1:n.627+1G>T |