Linked Data
ClinVar Variation Id:
337490
ClinVar RCV Id:
RCV000394443
dbSNP Id:
rs77989183
gnomAD v2:
2-96918566-C-T
gnomAD v3:
2-96252828-C-T
gnomAD v4:
2-96252828-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96252828C>T , CM000664.2:g.96252828C>T | GRCh38 |
| NC_000002.11:g.96918566C>T , CM000664.1:g.96918566C>T | GRCh37 |
| NC_000002.10:g.96282293C>T | NCBI36 |
| NG_027695.1:g.18186G>A , LRG_528:g.18186G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000258439.8:c.*980G>A MANE Select | ENSP00000258439.3:n.*980G>A | |
| ENST00000258439.7:c.*980G>A | ENSP00000258439.2:n.*980G>A | |
| ENST00000432959.1:c.*980G>A | ENSP00000416660.1:n.*980G>A | |
| NM_001193304.2:c.*980G>A | NP_001180233.1:n.*980G>A | |
| NM_017849.3:c.*980G>A , LRG_528t1:c.*980G>A | NP_060319.1:n.*980G>A | |
| XM_017004450.1:c.*281G>A | XP_016859939.1:n.*281G>A | |
| XM_017004452.1:c.*980G>A | XP_016859941.1:n.*980G>A | |
| NM_001193304.3:c.*980G>A | NP_001180233.1:n.*980G>A | |
| NM_017849.4:c.*980G>A MANE Select | NP_060319.1:n.*980G>A |