ClinVar Variation:
dbSNP:
Revel Score:
ENST00000316673 (MANE Select)
0.976
ENST00000457232
0.976
ENST00000316099
0.976
ENST00000443598
0.976
ENST00000338692
0.976
ENST00000415691
0.976
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44406229G>A , CM000682.2:g.44406229G>A | GRCh38 |
| NC_000020.10:g.43034869G>A , CM000682.1:g.43034869G>A | GRCh37 |
| NC_000020.9:g.42468283G>A | NCBI36 |
| NG_009818.1:g.55429G>A , LRG_483:g.55429G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316673.9:c.221G>A MANE Select | ENSP00000315180.4:p.Cys74Tyr | |
| ENST00000316099.10:c.287G>A | ENSP00000312987.3:p.Cys96Tyr | |
| ENST00000619550.5:c.261G>A | ||
| ENST00000681977.1:c.263G>A | ENSP00000507189.1:p.Cys88Tyr | |
| ENST00000682169.1:c.240G>A | ||
| ENST00000683148.1:n.263G>A | ||
| ENST00000683657.1:n.263G>A | ||
| ENST00000684046.1:c.263G>A | ENSP00000507555.1:p.Cys88Tyr | |
| ENST00000684136.1:c.263G>A | ENSP00000507389.1:p.Cys88Tyr | |
| ENST00000684476.1:c.244G>A | ENSP00000507529.1:p.Ala82Thr | |
| ENST00000316099.9:c.287G>A | ENSP00000312987.3:p.Cys96Tyr | |
| ENST00000316099.8:c.287G>A | ENSP00000312987.3:p.Cys96Tyr | |
| ENST00000316673.8:c.221G>A | ENSP00000315180.4:p.Cys74Tyr | |
| ENST00000372920.1:c.*54G>A | ENSP00000362011.1:n.*54G>A | |
| ENST00000415691.2:c.287G>A | ENSP00000412111.1:p.Cys96Tyr | |
| ENST00000443598.6:c.287G>A | ENSP00000410911.2:p.Cys96Tyr | |
| ENST00000457232.5:c.221G>A | ENSP00000396216.1:p.Cys74Tyr | |
| ENST00000609262.5:c.212G>A | ENSP00000476310.1:p.Cys71Tyr | |
| ENST00000609795.5:c.221G>A | ENSP00000476609.1:p.Cys74Tyr | |
| ENST00000619550.4:c.212G>A | ENSP00000481331.1:p.Cys71Tyr | |
| NM_000457.4:c.287G>A , LRG_483t2:c.287G>A | NP_000448.3:p.Cys96Tyr | |
| NM_001030003.2:c.221G>A | NP_001025174.1:p.Cys74Tyr | |
| NM_001030004.2:c.221G>A | NP_001025175.1:p.Cys74Tyr | |
| NM_001258355.1:c.266G>A | NP_001245284.1:p.Cys89Tyr | |
| NM_001287182.1:c.212G>A | NP_001274111.1:p.Cys71Tyr | |
| NM_001287183.1:c.212G>A , LRG_483t3:c.212G>A | NP_001274112.1:p.Cys71Tyr | |
| NM_001287184.1:c.212G>A | NP_001274113.1:p.Cys71Tyr | |
| NM_175914.4:c.221G>A , LRG_483t1:c.221G>A | NP_787110.2:p.Cys74Tyr | |
| NM_178849.2:c.287G>A | NP_849180.1:p.Cys96Tyr | |
| NM_178850.2:c.287G>A | NP_849181.1:p.Cys96Tyr | |
| XM_005260407.2:c.404G>A | XP_005260464.1:p.Cys135Tyr | |
| XM_011528797.1:c.335G>A | XP_011527099.1:p.Cys112Tyr | |
| XM_011528798.1:c.335G>A | XP_011527100.1:p.Cys112Tyr | |
| XM_005260407.4:c.404G>A | XP_005260464.1:p.Cys135Tyr | |
| NM_001030003.3:c.221G>A | NP_001025174.1:p.Cys74Tyr | |
| NM_001030004.3:c.221G>A | NP_001025175.1:p.Cys74Tyr | |
| NM_001258355.2:c.266G>A | NP_001245284.1:p.Cys89Tyr | |
| NM_001287182.2:c.212G>A | NP_001274111.1:p.Cys71Tyr | |
| NM_001287184.2:c.212G>A | NP_001274113.1:p.Cys71Tyr | |
| NM_178849.3:c.287G>A | NP_849180.1:p.Cys96Tyr | |
| NM_178850.3:c.287G>A | NP_849181.1:p.Cys96Tyr | |
| NM_000457.5:c.287G>A | NP_000448.3:p.Cys96Tyr | |
| NM_000457.6:c.287G>A | NP_000448.3:p.Cys96Tyr | |
| NM_001287183.2:c.212G>A | NP_001274112.1:p.Cys71Tyr | |
| NM_175914.5:c.221G>A MANE Select | NP_787110.2:p.Cys74Tyr |