Linked Data
ClinVar Variation Id:
2183130
ClinVar RCV Id:
RCV002615357
dbSNP Id:
rs928164677
gnomAD v2:
5-14871456-C-T
gnomAD v3:
5-14871347-C-T
gnomAD v4:
5-14871347-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.14871347C>T , CM000667.2:g.14871347C>T | GRCh38 |
| NC_000005.9:g.14871456C>T , CM000667.1:g.14871456C>T | GRCh37 |
| NC_000005.8:g.14924456C>T | NCBI36 |
| NG_008273.1:g.5432G>A | |
| NG_008273.2:g.5439G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284268.8:c.96+5G>A MANE Select | ENSP00000284268.6:n.96+5G>A | |
| ENST00000284268.6:c.96+5G>A | ENSP00000284268.6:n.96+5G>A | |
| ENST00000505140.1:c.101G>A | ENSP00000426332.1:p.Ser34Asn | |
| ENST00000513115.1:n.121+5G>A | ||
| NM_054027.4:c.96+5G>A | NP_473368.1:n.96+5G>A | |
| XM_011514067.1:c.96+5G>A | XP_011512369.1:n.96+5G>A | |
| NM_054027.5:c.96+5G>A | NP_473368.1:n.96+5G>A | |
| NM_054027.6:c.96+5G>A MANE Select | NP_473368.1:n.96+5G>A |