Linked Data
dbSNP Id:
rs1003430353
gnomAD v2:
2-189863746-C-A
gnomAD v3:
2-188999020-C-A
gnomAD v4:
2-188999020-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188999020C>A , CM000664.2:g.188999020C>A | GRCh38 |
| NC_000002.11:g.189863746C>A , CM000664.1:g.189863746C>A | GRCh37 |
| NC_000002.10:g.189571991C>A | NCBI36 |
| NG_007404.1:g.29648C>A , LRG_3:g.29648C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.1924-265C>A | ENSP00000415346.2:n.1924-265C>A | |
| ENST00000304636.9:c.2023-265C>A MANE Select | ENSP00000304408.4:n.2023-265C>A | |
| ENST00000304636.7:c.2023-265C>A | ENSP00000304408.3:n.2023-265C>A | |
| ENST00000317840.9:c.2023-265C>A | ENSP00000315243.6:n.2023-265C>A | |
| NM_000090.3:c.2023-265C>A , LRG_3t1:c.2023-265C>A | NP_000081.1:n.2023-265C>A | |
| NM_000090.4:c.2023-265C>A MANE Select | NP_000081.2:n.2023-265C>A |