Linked Data
dbSNP Id:
rs1263273696
gnomAD v2:
12-421239-G-A
gnomAD v3:
12-312073-G-A
gnomAD v4:
12-312073-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.312073G>A , CM000674.2:g.312073G>A | GRCh38 |
| NC_000012.11:g.421239G>A , CM000674.1:g.421239G>A | GRCh37 |
| NC_000012.10:g.291500G>A | NCBI36 |
| NG_046993.1:g.82383C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399788.7:c.3036+983C>T MANE Select | ENSP00000382688.2:n.3036+983C>T | |
| ENST00000382815.8:c.3036+983C>T | ENSP00000372265.5:n.3036+983C>T | |
| ENST00000399788.6:c.3036+983C>T | ENSP00000382688.2:n.3036+983C>T | |
| ENST00000544760.1:c.1893+983C>T | ENSP00000440622.1:n.1893+983C>T | |
| NM_001042603.2:c.3036+983C>T | NP_001036068.1:n.3036+983C>T | |
| NM_001042603.3:c.3036+983C>T MANE Select | NP_001036068.1:n.3036+983C>T |