Revel Score:
ENST00000343684 (MANE Select)
0.009
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.28259658A>C , CM000668.2:g.28259658A>C | GRCh38 |
| NC_000006.11:g.28227436A>C , CM000668.1:g.28227436A>C | GRCh37 |
| NC_000006.10:g.28335415A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000343684.4:c.287A>C MANE Select | ENSP00000345716.3:p.Tyr96Ser | |
| ENST00000343684.3:c.287A>C | ENSP00000345716.3:p.Tyr96Ser | |
| NM_001007531.2:c.287A>C | NP_001007532.1:p.Tyr96Ser | |
| NM_001007531.3:c.287A>C MANE Select | NP_001007532.1:p.Tyr96Ser |