dbSNP:
gnomAD v3:
gnomAD v4:
Revel Score:
ENST00000368115
0.055
ENST00000368114
0.055
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.159304102A>T , CM000663.2:g.159304102A>T | GRCh38 |
| NC_000001.10:g.159273892A>T , CM000663.1:g.159273892A>T | GRCh37 |
| NC_000001.9:g.157540516A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000693622.1:c.251A>T MANE Select | ENSP00000509626.1:p.Lys84Ile | |
| ENST00000368114.1:c.152A>T | ENSP00000357096.1:p.Lys51Ile | |
| ENST00000368115.5:c.251A>T | ENSP00000357097.1:p.Lys84Ile | |
| NM_002001.3:c.251A>T | NP_001992.1:p.Lys84Ile | |
| NM_001387280.1:c.251A>T MANE Select | NP_001374209.1:p.Lys84Ile | |
| NM_001387281.1:c.76+1228A>T | NP_001374210.1:n.76+1228A>T | |
| NM_001387282.1:c.152A>T | NP_001374211.1:p.Lys51Ile | |
| NM_002001.4:c.251A>T | NP_001992.1:p.Lys84Ile |