Linked Data
ClinVar Variation Id:
337510
ClinVar RCV Id:
RCV000265358
dbSNP Id:
rs527792197
gnomAD v2:
2-96931206-G-A
gnomAD v3:
2-96265468-G-A
gnomAD v4:
2-96265468-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96265468G>A , CM000664.2:g.96265468G>A | GRCh38 |
| NC_000002.11:g.96931206G>A , CM000664.1:g.96931206G>A | GRCh37 |
| NC_000002.10:g.96294933G>A | NCBI36 |
| NG_027695.1:g.5546C>T , LRG_528:g.5546C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258439.8:c.-87C>T MANE Select | ENSP00000258439.3:n.-87C>T | |
| ENST00000258439.7:c.-87C>T | ENSP00000258439.2:n.-87C>T | |
| ENST00000432959.1:c.-87C>T | ENSP00000416660.1:n.-87C>T | |
| NM_001193304.2:c.-87C>T | NP_001180233.1:n.-87C>T | |
| NM_017849.3:c.-87C>T , LRG_528t1:c.-87C>T | NP_060319.1:n.-87C>T | |
| NM_001193304.3:c.-87C>T | NP_001180233.1:n.-87C>T | |
| NM_017849.4:c.-87C>T MANE Select | NP_060319.1:n.-87C>T |