Linked Data
dbSNP Id:
rs984768088
gnomAD v2:
8-144810763-C-T
gnomAD v3:
8-143728593-C-T
gnomAD v4:
8-143728593-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.143728593C>T , CM000670.2:g.143728593C>T | GRCh38 |
| NC_000008.10:g.144810763C>T , CM000670.1:g.144810763C>T | GRCh37 |
| NC_000008.9:g.144882751C>T | NCBI36 |
| NG_016652.1:g.10152G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388913.4:c.868G>A MANE Select | ENSP00000373565.3:p.Ala290Thr | |
| ENST00000650760.1:c.1471G>A | ENSP00000499217.1:p.Ala491Thr | |
| ENST00000388913.3:c.868G>A | ENSP00000373565.3:p.Ala290Thr | |
| ENST00000395103.2:c.48G>A | ||
| NM_198488.3:c.868G>A | NP_940890.3:p.Ala290Thr | |
| XM_005250887.2:c.925G>A | XP_005250944.1:p.Ala309Thr | |
| XM_005250888.2:c.886G>A | XP_005250945.1:p.Ala296Thr | |
| XM_005250889.2:c.868G>A | XP_005250946.1:p.Ala290Thr | |
| XM_011516980.1:c.1189G>A | XP_011515282.1:p.Ala397Thr | |
| XM_011516981.1:c.1036G>A | XP_011515283.1:p.Ala346Thr | |
| XM_005250887.3:c.925G>A | XP_005250944.1:p.Ala309Thr | |
| XM_005250888.3:c.886G>A | XP_005250945.1:p.Ala296Thr | |
| XM_005250889.3:c.868G>A | XP_005250946.1:p.Ala290Thr | |
| XM_011516980.2:c.1471G>A | XP_011515282.2:p.Ala491Thr | |
| XM_011516981.2:c.1036G>A | XP_011515283.1:p.Ala346Thr | |
| XM_024447131.1:c.868G>A | XP_024302899.1:p.Ala290Thr | |
| NM_198488.4:c.868G>A | NP_940890.3:p.Ala290Thr | |
| NM_198488.5:c.868G>A MANE Select | NP_940890.4:p.Ala290Thr |