dbSNP:
Revel Score:
ENST00000260649 (MANE Select)
0.876
ENST00000409387
0.876
ENST00000540334
0.876
ENST00000409229
0.876
ENST00000541289
0.876
ENST00000409380
0.876
ENST00000409294
0.876
ENST00000409740
0.876
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.44313931T>C , CM000664.2:g.44313931T>C | GRCh38 |
| NC_000002.11:g.44541070T>C , CM000664.1:g.44541070T>C | GRCh37 |
| NC_000002.10:g.44394574T>C | NCBI36 |
| NG_008233.1:g.43474T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260649.11:c.1597T>C MANE Select | ENSP00000260649.6:p.Tyr533His | |
| ENST00000649044.1:c.*1608T>C | ENSP00000497083.1:n.*1608T>C | |
| ENST00000260649.10:c.1597T>C | ENSP00000260649.6:p.Tyr533His | |
| ENST00000409229.7:c.1597T>C | ENSP00000386620.3:p.Tyr533His | |
| ENST00000409294.5:c.457T>C | ENSP00000386852.1:p.Tyr153His | |
| ENST00000409380.5:c.763T>C | ENSP00000386709.1:p.Tyr255His | |
| ENST00000409387.5:c.1597T>C | ENSP00000387308.1:p.Tyr533His | |
| ENST00000409740.3:c.490T>C | ENSP00000386677.3:p.Tyr164His | |
| ENST00000611973.4:c.1597T>C | ENSP00000483618.1:p.Tyr533His | |
| NM_000341.3:c.1597T>C | NP_000332.2:p.Tyr533His | |
| XM_011533047.1:c.1597T>C | XP_011531349.1:p.Tyr533His | |
| XM_011533047.3:c.1597T>C | XP_011531349.1:p.Tyr533His | |
| NM_000341.4:c.1597T>C MANE Select | NP_000332.2:p.Tyr533His |