Revel Score:
ENST00000533357 (MANE Select)
0.444
ENST00000360451
0.444
ENST00000336559
0.444
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.161307389C>G , CM000663.2:g.161307389C>G | GRCh38 |
| NC_000001.10:g.161277179C>G , CM000663.1:g.161277179C>G | GRCh37 |
| NC_000001.9:g.159543803C>G | NCBI36 |
| NG_008055.1:g.7584G>C , LRG_256:g.7584G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526189.3:c.103G>C | ENSP00000488104.2:p.Asp35His | |
| ENST00000533357.5:c.103G>C MANE Select | ENSP00000432943.1:p.Asp35His | |
| ENST00000672287.2:c.-486G>C | ENSP00000499818.2:n.-486G>C | |
| ENST00000672602.2:c.103G>C | ENSP00000500814.2:p.Asp35His | |
| ENST00000674861.1:n.166G>C | ||
| ENST00000463290.5:c.103G>C | ENSP00000431538.1:p.Asp35His | |
| ENST00000491222.5:c.-486G>C | ENSP00000431441.1:n.-486G>C | |
| ENST00000533357.4:c.103G>C | ENSP00000432943.1:p.Asp35His | |
| NM_000530.6:c.103G>C , LRG_256t1:c.103G>C | NP_000521.2:p.Asp35His | |
| NM_000530.7:c.103G>C | NP_000521.2:p.Asp35His | |
| NM_001315491.1:c.103G>C | NP_001302420.1:p.Asp35His | |
| XM_017001321.2:c.133G>C | XP_016856810.1:p.Asp45His | |
| NM_000530.8:c.103G>C MANE Select | NP_000521.2:p.Asp35His | |
| NM_001315491.2:c.103G>C | NP_001302420.1:p.Asp35His |