Revel Score:
ENST00000378454 (MANE Select)
0.460
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24290955C>G , CM000668.2:g.24290955C>G | GRCh38 |
| NC_000006.11:g.24291183C>G , CM000668.1:g.24291183C>G | GRCh37 |
| NC_000006.10:g.24399162C>G | NCBI36 |
| NG_012829.1:g.72098G>C | |
| NG_012829.2:g.97338G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378454.8:c.681G>C MANE Select | ENSP00000367715.3:p.Lys227Asn | |
| ENST00000378454.7:c.681G>C | ENSP00000367715.3:p.Lys227Asn | |
| NM_001195610.1:c.681G>C | NP_001182539.1:p.Lys227Asn | |
| NM_016356.4:c.681G>C | NP_057440.2:p.Lys227Asn | |
| NM_016356.5:c.681G>C MANE Select | NP_057440.2:p.Lys227Asn | |
| NM_001195610.2:c.681G>C | NP_001182539.1:p.Lys227Asn |