Linked Data
dbSNP Id:
rs1268274005
gnomAD v2:
12-52845444-A-T
gnomAD v3:
12-52451660-A-T
gnomAD v4:
12-52451660-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52451660A>T , CM000674.2:g.52451660A>T | GRCh38 |
| NC_000012.11:g.52845444A>T , CM000674.1:g.52845444A>T | GRCh37 |
| NC_000012.10:g.51131711A>T | NCBI36 |
| NG_008299.1:g.5467T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252252.4:c.419T>A MANE Select | ENSP00000252252.3:p.Val140Asp | |
| ENST00000252252.3:c.419T>A | ENSP00000252252.3:p.Val140Asp | |
| NM_005555.3:c.419T>A | NP_005546.2:p.Val140Asp | |
| NM_005555.4:c.419T>A MANE Select | NP_005546.2:p.Val140Asp |