Revel Score:
ENST00000369754
0.768
ENST00000320172 (MANE Select)
0.768
ENST00000369756
0.768
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.81750332T>C , CM000668.2:g.81750332T>C | GRCh38 |
| NC_000006.11:g.82460049T>C , CM000668.1:g.82460049T>C | GRCh37 |
| NC_000006.10:g.82516768T>C | NCBI36 |
| NG_056210.1:g.7380A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320172.11:c.692A>G MANE Select | ENSP00000318298.6:p.Asp231Gly | |
| ENST00000320172.10:c.692A>G | ENSP00000318298.6:p.Asp231Gly | |
| ENST00000369754.7:c.749A>G | ENSP00000358769.3:p.Asp250Gly | |
| ENST00000369756.3:c.935A>G | ENSP00000358771.3:p.Asp312Gly | |
| ENST00000412306.1:c.223+1258A>G | ||
| ENST00000423467.1:c.165-271A>G | ||
| NM_017633.2:c.692A>G | NP_060103.2:p.Asp231Gly | |
| NM_017633.3:c.692A>G MANE Select | NP_060103.2:p.Asp231Gly |