ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005669 (AMR)
Genomes Max Group AF
0.00002369 (AMR)
Exomes Max Group AF
0.00004529 (AMR)
Revel Score:
ENST00000545712 (MANE Select)
0.860
ENST00000266839
0.860
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109561076T>A , CM000674.2:g.109561076T>A | GRCh38 |
| NC_000012.11:g.109998881T>A , CM000674.1:g.109998881T>A | GRCh37 |
| NC_000012.10:g.108483264T>A | NCBI36 |
| NG_007096.1:g.17422A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545712.7:c.548A>T MANE Select | ENSP00000445920.1:p.His183Leu | |
| ENST00000537496.5:c.*113A>T | ENSP00000444793.1:n.*113A>T | |
| ENST00000540016.5:c.392A>T | ENSP00000474582.1:p.His131Leu | |
| ENST00000541763.6:c.773A>T | ENSP00000474981.1:n.773A>T | |
| ENST00000544051.5:c.*429A>T | ENSP00000438079.1:n.*429A>T | |
| ENST00000545712.6:c.548A>T | ENSP00000445920.1:p.His183Leu | |
| NM_052845.3:c.548A>T | NP_443077.1:p.His183Leu | |
| NR_038118.1:n.708A>T | ||
| XM_011538266.1:c.393A>T | XP_011536568.1:p.Ala131= | |
| XM_011538267.1:c.393A>T | XP_011536569.1:p.Ala131= | |
| XM_011538268.1:c.275A>T | XP_011536570.1:p.His92Leu | |
| XM_011538269.1:c.272A>T | XP_011536571.1:p.His91Leu | |
| XM_011538267.3:c.393A>T | XP_011536569.1:p.Ala131= | |
| XM_011538268.2:c.275A>T | XP_011536570.1:p.His92Leu | |
| XM_011538269.2:c.272A>T | XP_011536571.1:p.His91Leu | |
| XM_024448961.1:c.548A>T | XP_024304729.1:p.His183Leu | |
| NM_052845.4:c.548A>T MANE Select | NP_443077.1:p.His183Leu | |
| NR_038118.2:n.659A>T |