Revel Score:
ENST00000359774 (MANE Select)
0.067
ENST00000358147
0.067
ENST00000392796
0.067
ENST00000409990
0.067
ENST00000409124
0.067
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000553 (AMR)
Exomes Max Group AF
0.00000741 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.159282870T>A , CM000664.2:g.159282870T>A | GRCh38 |
| NC_000002.11:g.160139381T>A , CM000664.1:g.160139381T>A | GRCh37 |
| NC_000002.10:g.159847627T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359774.9:c.200A>T MANE Select | ENSP00000352820.4:p.His67Leu | |
| ENST00000358147.8:c.200A>T | ENSP00000350866.4:p.His67Leu | |
| ENST00000359774.8:c.200A>T | ENSP00000352820.4:p.His67Leu | |
| ENST00000392796.7:c.200A>T | ENSP00000376545.3:p.His67Leu | |
| ENST00000409124.1:c.200A>T | ENSP00000386891.1:p.His67Leu | |
| ENST00000409990.7:c.200A>T | ENSP00000387078.3:p.His67Leu | |
| NM_001128212.1:c.200A>T | NP_001121684.1:p.His67Leu | |
| NM_001128212.2:c.200A>T | NP_001121684.1:p.His67Leu | |
| NM_001128213.1:c.200A>T | NP_001121685.1:p.His67Leu | |
| NM_001307994.1:c.200A>T | NP_001294923.1:p.His67Leu | |
| NM_152528.2:c.200A>T | NP_689741.2:p.His67Leu | |
| XM_005246355.2:c.200A>T | XP_005246412.2:p.His67Leu | |
| XM_006712341.2:c.-109-2925A>T | XP_006712404.1:n.-109-2925A>T | |
| XM_006712342.2:c.-421A>T | XP_006712405.1:n.-421A>T | |
| XM_011510753.1:c.200A>T | XP_011509055.1:p.His67Leu | |
| XM_011510754.1:c.-62A>T | XP_011509056.1:n.-62A>T | |
| XR_922879.1:n.435A>T | ||
| NM_001330274.1:c.200A>T | NP_001317203.1:p.His67Leu | |
| NM_001330276.1:c.200A>T | NP_001317205.1:p.His67Leu | |
| NM_001330277.1:c.-62A>T | NP_001317206.1:n.-62A>T | |
| NM_001330278.1:c.200A>T | NP_001317207.1:p.His67Leu | |
| NM_001330279.1:c.-109-2925A>T | NP_001317208.1:n.-109-2925A>T | |
| NM_001330280.1:c.-421A>T | NP_001317209.1:n.-421A>T | |
| XM_017003481.1:c.200A>T | XP_016858970.1:p.His67Leu | |
| XM_024452733.1:c.-421A>T | XP_024308501.1:n.-421A>T | |
| XR_001738650.2:n.435A>T | ||
| XR_001738651.1:n.435A>T | ||
| XR_922879.2:n.435A>T | ||
| NM_001128212.3:c.200A>T MANE Select | NP_001121684.1:p.His67Leu | |
| NM_001128213.2:c.200A>T | NP_001121685.1:p.His67Leu | |
| NM_001307994.2:c.200A>T | NP_001294923.1:p.His67Leu | |
| NM_001330274.2:c.200A>T | NP_001317203.1:p.His67Leu | |
| NM_001330276.2:c.200A>T | NP_001317205.1:p.His67Leu | |
| NM_001330277.2:c.-62A>T | NP_001317206.1:n.-62A>T | |
| NM_001330278.2:c.200A>T | NP_001317207.1:p.His67Leu | |
| NM_001330279.2:c.-109-2925A>T | NP_001317208.1:n.-109-2925A>T | |
| NM_001330280.2:c.-421A>T | NP_001317209.1:n.-421A>T | |
| NM_152528.3:c.200A>T | NP_689741.2:p.His67Leu |