Revel Score:
ENST00000261590 (MANE Select)
0.541
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31531038A>C , CM000680.2:g.31531038A>C | GRCh38 |
| NC_000018.9:g.29111001A>C , CM000680.1:g.29111001A>C | GRCh37 |
| NC_000018.8:g.27364999A>C | NCBI36 |
| NG_007072.3:g.37797A>C , LRG_397:g.37797A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683614.2:n.897A>C | ||
| ENST00000683614.1:c.897A>C | ||
| ENST00000261590.13:c.1066A>C MANE Select | ENSP00000261590.8:p.Asn356His | |
| ENST00000261590.12:c.1066A>C | ENSP00000261590.8:p.Asn356His | |
| NM_001943.3:c.1066A>C , LRG_397t1:c.1066A>C | NP_001934.2:p.Asn356His | |
| NM_001943.4:c.1066A>C | NP_001934.2:p.Asn356His | |
| XM_024451095.1:c.532A>C | XP_024306863.1:p.Asn178His | |
| NM_001943.5:c.1066A>C MANE Select | NP_001934.2:p.Asn356His |