Linked Data
ClinVar Variation Id:
332504
ClinVar RCV Id:
RCV000380241
dbSNP Id:
rs150556295
gnomAD v2:
2-176984238-G-A
gnomAD v3:
2-176119510-G-A
gnomAD v4:
2-176119510-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.176119510G>A , CM000664.2:g.176119510G>A | GRCh38 |
| NC_000002.11:g.176984238G>A , CM000664.1:g.176984238G>A | GRCh37 |
| NC_000002.10:g.176692484G>A | NCBI36 |
| NG_008133.2:g.12747G>A , LRG_246:g.12747G>A | |
| NG_009225.1:g.1826G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000249501.5:c.*279G>A MANE Select | ENSP00000249501.4:n.*279G>A | |
| ENST00000249501.4:c.*279G>A | ENSP00000249501.4:n.*279G>A | |
| NM_002148.3:c.*279G>A , LRG_246t1:c.*279G>A | NP_002139.2:n.*279G>A | |
| NM_002148.4:c.*279G>A MANE Select | NP_002139.2:n.*279G>A |