Linked Data
ClinVar Variation Id:
347559
ClinVar RCV Id:
RCV000353419
dbSNP Id:
rs748718122
ExAC:
4:140375302 C / T
gnomAD v2:
4-140375302-C-T
gnomAD v3:
4-139454148-C-T
gnomAD v4:
4-139454148-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.139454148C>T , CM000666.2:g.139454148C>T | GRCh38 |
| NC_000004.11:g.140375302C>T , CM000666.1:g.140375302C>T | GRCh37 |
| NC_000004.10:g.140594752C>T | NCBI36 |
| NG_051587.1:g.5917C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305626.6:c.-48C>T MANE Select | ENSP00000306496.5:n.-48C>T | |
| ENST00000652268.1:c.126-29C>T | ENSP00000498778.1:n.126-29C>T | |
| ENST00000305626.5:c.-48C>T | ENSP00000306496.5:n.-48C>T | |
| ENST00000507271.1:n.467-29C>T | ||
| NM_031296.1:c.-48C>T | NP_112586.1:n.-48C>T | |
| XM_011532299.1:c.126-29C>T | XP_011530601.1:n.126-29C>T | |
| XR_244727.2:n.40G>A | ||
| XR_939245.1:n.40G>A | ||
| NM_031296.2:c.-48C>T | NP_112586.1:n.-48C>T | |
| NM_031296.3:c.-48C>T MANE Select | NP_112586.1:n.-48C>T |