Linked Data
ClinVar Variation Id:
420545
ClinVar RCV Id:
RCV000482290
dbSNP Id:
rs1064794548
gnomAD v2:
8-61765157-G-A
gnomAD v4:
8-60852598-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.60852598G>A , CM000670.2:g.60852598G>A | GRCh38 |
| NC_000008.10:g.61765157G>A , CM000670.1:g.61765157G>A | GRCh37 |
| NC_000008.9:g.61927711G>A | NCBI36 |
| NG_007009.1:g.178819G>A , LRG_176:g.178819G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695853.1:c.5995G>A | ENSP00000512218.1:p.Ala1999Thr | |
| ENST00000423902.7:c.5995G>A MANE Select | ENSP00000392028.1:p.Ala1999Thr | |
| ENST00000423902.6:c.5995G>A | ENSP00000392028.1:p.Ala1999Thr | |
| ENST00000524602.5:c.1717-9631G>A | ENSP00000437061.1:n.1717-9631G>A | |
| ENST00000527921.1:n.486G>A | ||
| NM_001316690.1:c.1717-9631G>A | NP_001303619.1:n.1717-9631G>A | |
| NM_017780.3:c.5995G>A | NP_060250.2:p.Ala1999Thr | |
| XM_011517553.1:c.6085G>A | XP_011515855.1:p.Ala2029Thr | |
| XM_011517554.1:c.6085G>A | XP_011515856.1:p.Ala2029Thr | |
| XM_011517555.1:c.6085G>A | XP_011515857.1:p.Ala2029Thr | |
| XM_011517556.1:c.6085G>A | XP_011515858.1:p.Ala2029Thr | |
| XM_011517557.1:c.4072G>A | XP_011515859.1:p.Ala1358Thr | |
| XM_011517558.1:c.3622G>A | XP_011515860.1:p.Ala1208Thr | |
| XM_011517559.1:c.2830G>A | XP_011515861.1:p.Ala944Thr | |
| XM_011517553.2:c.6085G>A | XP_011515855.1:p.Ala2029Thr | |
| XM_011517554.3:c.6085G>A | XP_011515856.1:p.Ala2029Thr | |
| XM_011517555.2:c.6085G>A | XP_011515857.1:p.Ala2029Thr | |
| XM_017013612.1:c.6085G>A | XP_016869101.1:p.Ala2029Thr | |
| XM_017013613.1:c.5995G>A | XP_016869102.1:p.Ala1999Thr | |
| NM_017780.4:c.5995G>A MANE Select | NP_060250.2:p.Ala1999Thr |