Linked Data
ClinVar Variation Id:
457924
dbSNP Id:
rs1261707371
gnomAD v2:
22-30051661-G-A
gnomAD v4:
22-29655672-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.29655672G>A , CM000684.2:g.29655672G>A | GRCh38 |
| NC_000022.10:g.30051661G>A , CM000684.1:g.30051661G>A | GRCh37 |
| NC_000022.9:g.28381661G>A | NCBI36 |
| NG_009057.1:g.57117G>A , LRG_511:g.57117G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361166.10:c.595G>A | ENSP00000354529.6:p.Ala199Thr | |
| ENST00000673312.2:c.*89G>A | ENSP00000500186.2:n.*89G>A | |
| ENST00000338641.10:c.595G>A MANE Select | ENSP00000344666.5:p.Ala199Thr | |
| ENST00000361166.9:c.148G>A | ENSP00000354529.5:p.Ala50Thr | |
| ENST00000672461.1:c.595G>A | ENSP00000500919.1:p.Ala199Thr | |
| ENST00000672805.1:c.*477G>A | ENSP00000500295.1:n.*477G>A | |
| ENST00000672896.1:c.595G>A | ENSP00000500117.1:p.Ala199Thr | |
| ENST00000673312.1:c.614G>A | ENSP00000500186.1:n.614G>A | |
| ENST00000334961.11:c.346G>A | ENSP00000335652.7:p.Ala116Thr | |
| ENST00000338641.8:c.595G>A | ENSP00000344666.4:p.Ala199Thr | |
| ENST00000353887.8:c.346G>A | ENSP00000340626.4:p.Ala116Thr | |
| ENST00000361166.8:c.595G>A | ENSP00000354529.4:p.Ala199Thr | |
| ENST00000361452.8:c.472G>A | ENSP00000354897.4:p.Ala158Thr | |
| ENST00000361676.8:c.469G>A | ENSP00000355183.4:p.Ala157Thr | |
| ENST00000397789.3:c.595G>A | ENSP00000380891.3:p.Ala199Thr | |
| ENST00000403435.5:c.595G>A | ENSP00000384029.1:p.Ala199Thr | |
| ENST00000403999.7:c.595G>A | ENSP00000384797.3:p.Ala199Thr | |
| ENST00000413209.6:c.447+13387G>A | ENSP00000409921.2:n.447+13387G>A | |
| ENST00000432151.5:c.199-5533G>A | ENSP00000395885.1:n.199-5533G>A | |
| NM_000268.3:c.595G>A , LRG_511t1:c.595G>A | NP_000259.1:p.Ala199Thr | |
| NM_016418.5:c.595G>A , LRG_511t2:c.595G>A | NP_057502.2:p.Ala199Thr | |
| NM_181825.2:c.595G>A | NP_861546.1:p.Ala199Thr | |
| NM_181828.2:c.469G>A | NP_861966.1:p.Ala157Thr | |
| NM_181829.2:c.472G>A | NP_861967.1:p.Ala158Thr | |
| NM_181830.2:c.346G>A | NP_861968.1:p.Ala116Thr | |
| NM_181831.2:c.346G>A | NP_861969.1:p.Ala116Thr | |
| NM_181832.2:c.595G>A | NP_861970.1:p.Ala199Thr | |
| NM_181833.2:c.447+13387G>A | NP_861971.1:n.447+13387G>A | |
| NR_156186.1:n.1154G>A | ||
| XM_017028809.2:c.481G>A | XP_016884298.1:p.Ala161Thr | |
| XM_017028810.1:c.481G>A | XP_016884299.1:p.Ala161Thr | |
| NM_000268.4:c.595G>A MANE Select | NP_000259.1:p.Ala199Thr | |
| NM_181825.3:c.595G>A | NP_861546.1:p.Ala199Thr | |
| NM_181828.3:c.469G>A | NP_861966.1:p.Ala157Thr | |
| NM_181829.3:c.472G>A | NP_861967.1:p.Ala158Thr | |
| NM_181830.3:c.346G>A | NP_861968.1:p.Ala116Thr | |
| NM_181831.3:c.346G>A | NP_861969.1:p.Ala116Thr | |
| NM_181832.3:c.595G>A | NP_861970.1:p.Ala199Thr | |
| NR_156186.2:n.1077G>A | ||
| NM_181833.3:c.447+13387G>A | NP_861971.1:n.447+13387G>A |