Linked Data
ClinVar Variation Id:
93011
dbSNP Id:
rs398123394
ExAC:
5:149314162 C / T
gnomAD v2:
5-149314162-C-T
gnomAD v3:
5-149934599-C-T
gnomAD v4:
5-149934599-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149934599C>T , CM000667.2:g.149934599C>T | GRCh38 |
| NC_000005.9:g.149314162C>T , CM000667.1:g.149314162C>T | GRCh37 |
| NC_000005.8:g.149294355C>T | NCBI36 |
| NG_009102.1:g.15195G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255266.10:c.594G>A MANE Select | ENSP00000255266.5:p.Val198= | |
| ENST00000255266.9:c.594G>A | ENSP00000255266.5:p.Val198= | |
| ENST00000508173.5:n.714G>A | ||
| ENST00000613228.1:c.475-3431G>A | ENSP00000478060.1:n.475-3431G>A | |
| ENST00000617647.4:c.475-3431G>A | ENSP00000482774.1:n.475-3431G>A | |
| NM_000440.2:c.594G>A | NP_000431.2:p.Val198= | |
| XM_011537648.1:c.594G>A | XP_011535950.1:p.Val198= | |
| XM_011537649.1:c.48G>A | XP_011535951.1:p.Val16= | |
| XM_017009572.2:c.475-3431G>A | XP_016865061.1:n.475-3431G>A | |
| NM_000440.3:c.594G>A MANE Select | NP_000431.2:p.Val198= |