Linked Data
dbSNP Id:
rs1190793054
gnomAD v2:
3-30886847-T-A
gnomAD v3:
3-30845355-T-A
gnomAD v4:
3-30845355-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30845355T>A , CM000665.2:g.30845355T>A | GRCh38 |
| NC_000003.11:g.30886847T>A , CM000665.1:g.30886847T>A | GRCh37 |
| NC_000003.10:g.30861851T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000282538.10:c.652-889A>T MANE Select | ENSP00000282538.5:n.652-889A>T | |
| ENST00000282538.9:c.652-889A>T | ENSP00000282538.5:n.652-889A>T | |
| ENST00000454381.3:c.652-889A>T | ENSP00000427059.1:n.652-889A>T | |
| NM_207359.2:c.652-889A>T | NP_997242.2:n.652-889A>T | |
| XM_017006297.1:c.595-889A>T | XP_016861786.1:n.595-889A>T | |
| XM_017006298.1:c.-7-1091A>T | XP_016861787.1:n.-7-1091A>T | |
| NM_207359.3:c.652-889A>T MANE Select | NP_997242.2:n.652-889A>T |