Revel Score:
ENST00000284601 (MANE Select)
0.036
ENST00000449795
0.036
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.113879664A>C , CM000669.2:g.113879664A>C | GRCh38 |
| NC_000007.13:g.113519719A>C , CM000669.1:g.113519719A>C | GRCh37 |
| NC_000007.12:g.113306955A>C | NCBI36 |
| NG_012116.1:g.44364T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284601.4:c.1428T>G MANE Select | ENSP00000284601.3:p.Asn476Lys | |
| ENST00000284601.3:c.1428T>G | ENSP00000284601.3:p.Asn476Lys | |
| ENST00000449795.5:c.465T>G | ENSP00000401278.1:p.Asn155Lys | |
| NM_002711.3:c.1428T>G | NP_002702.2:p.Asn476Lys | |
| XM_005250473.2:c.825T>G | XP_005250530.1:p.Asn275Lys | |
| XM_005250473.3:c.825T>G | XP_005250530.1:p.Asn275Lys | |
| NM_002711.4:c.1428T>G MANE Select | NP_002702.2:p.Asn476Lys |