Linked Data
ClinVar Variation Id:
317051
ClinVar RCV Id:
RCV000329152
dbSNP Id:
rs561320483
gnomAD v2:
15-72668449-C-T
gnomAD v3:
15-72376108-C-T
gnomAD v4:
15-72376108-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72376108C>T , CM000677.2:g.72376108C>T | GRCh38 |
| NC_000015.9:g.72668449C>T , CM000677.1:g.72668449C>T | GRCh37 |
| NC_000015.8:g.70455503C>T | NCBI36 |
| NG_009017.1:g.5072G>A | |
| NG_009017.2:g.5072G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268097.9:c.-136G>A | ENSP00000268097.5:n.-136G>A | |
| ENST00000569509.5:n.146+167G>A | ||
| NM_000520.4:c.-136G>A | NP_000511.2:n.-136G>A | |
| NM_000520.5:c.-136G>A | NP_000511.2:n.-136G>A | |
| NM_001318825.1:c.-136G>A | NP_001305754.1:n.-136G>A | |
| NR_134869.1:n.366G>A |