Linked Data
ClinVar Variation Id:
427858
ClinVar RCV Id:
RCV000515673
dbSNP Id:
rs794727166
gnomAD v4:
5-149884474-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149884474C>A , CM000667.2:g.149884474C>A | GRCh38 |
| NC_000005.9:g.149264037C>A , CM000667.1:g.149264037C>A | GRCh37 |
| NC_000005.8:g.149244230C>A | NCBI36 |
| NG_009102.1:g.65320G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255266.10:c.2027+5G>T MANE Select | ENSP00000255266.5:n.2027+5G>T | |
| ENST00000255266.9:c.2027+5G>T | ENSP00000255266.5:n.2027+5G>T | |
| ENST00000508173.5:n.2211+5G>T | ||
| ENST00000613228.1:c.1784+5G>T | ENSP00000478060.1:n.1784+5G>T | |
| ENST00000617647.4:c.1784+5G>T | ENSP00000482774.1:n.1784+5G>T | |
| NM_000440.2:c.2027+5G>T | NP_000431.2:n.2027+5G>T | |
| XM_011537648.1:c.2027+5G>T | XP_011535950.1:n.2027+5G>T | |
| XM_011537649.1:c.1481+5G>T | XP_011535951.1:n.1481+5G>T | |
| XM_011537650.1:c.1142+5G>T | XP_011535952.1:n.1142+5G>T | |
| XM_011537651.1:c.980+5G>T | XP_011535953.1:n.980+5G>T | |
| XM_011537652.1:c.950+5G>T | XP_011535954.1:n.950+5G>T | |
| XM_011537653.1:c.950+5G>T | XP_011535955.1:n.950+5G>T | |
| XM_011537654.1:c.950+5G>T | XP_011535956.1:n.950+5G>T | |
| XM_011537650.2:c.1142+5G>T | XP_011535952.1:n.1142+5G>T | |
| XM_011537651.2:c.980+5G>T | XP_011535953.1:n.980+5G>T | |
| XM_011537653.2:c.950+5G>T | XP_011535955.1:n.950+5G>T | |
| XM_011537654.2:c.950+5G>T | XP_011535956.1:n.950+5G>T | |
| XM_017009572.2:c.1784+5G>T | XP_016865061.1:n.1784+5G>T | |
| NM_000440.3:c.2027+5G>T MANE Select | NP_000431.2:n.2027+5G>T |