Linked Data
ClinVar Variation Id:
316125
ClinVar RCV Id:
RCV000327846
dbSNP Id:
rs4775744
gnomAD v2:
15-45385496-A-T
gnomAD v3:
15-45093298-A-T
gnomAD v4:
15-45093298-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45093298A>T , CM000677.2:g.45093298A>T | GRCh38 |
| NC_000015.9:g.45385496A>T , CM000677.1:g.45385496A>T | GRCh37 |
| NC_000015.8:g.43172788A>T | NCBI36 |
| NG_009447.1:g.25864T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389039.11:c.*852T>A MANE Select | ENSP00000373691.7:n.*852T>A | |
| ENST00000389039.10:c.*852T>A | ENSP00000373691.6:n.*852T>A | |
| ENST00000603300.1:c.*852T>A | ENSP00000475084.1:n.*852T>A | |
| NM_014080.4:c.*852T>A | NP_054799.4:n.*852T>A | |
| XM_005254421.2:c.*852T>A | XP_005254478.1:n.*852T>A | |
| NM_001363711.1:c.*852T>A | NP_001350640.1:n.*852T>A | |
| NM_001363711.2:c.*852T>A MANE Select | NP_001350640.1:n.*852T>A | |
| NM_014080.5:c.*852T>A | NP_054799.4:n.*852T>A |