Linked Data
dbSNP Id:
rs1867277
gnomAD v2:
9-100615914-A-G
gnomAD v3:
9-97853632-A-G
gnomAD v4:
9-97853632-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97853632A>G , CM000671.2:g.97853632A>G | GRCh38 |
| NC_000009.11:g.100615914A>G , CM000671.1:g.100615914A>G | GRCh37 |
| NC_000009.10:g.99655735A>G | NCBI36 |
| NG_011979.1:g.5378A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375123.5:c.-283A>G MANE Select | ENSP00000364265.3:n.-283A>G | |
| ENST00000375123.4:c.-283A>G | ENSP00000364265.3:n.-283A>G | |
| NM_004473.3:c.-283A>G | NP_004464.2:n.-283A>G | |
| NM_004473.4:c.-283A>G MANE Select | NP_004464.2:n.-283A>G |