Revel Score:
ENST00000330342 (MANE Select)
0.434
ENST00000541854
0.434
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00080906 (EAS)
Genomes Max Group AF
0.00077014 (EAS)
Exomes Max Group AF
0.00073834 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123724747C>T , CM000674.2:g.123724747C>T | GRCh38 |
| NC_000012.11:g.124209294C>T , CM000674.1:g.124209294C>T | GRCh37 |
| NC_000012.10:g.122775247C>T | NCBI36 |
| NG_012743.1:g.17430C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330342.8:c.388C>T MANE Select | ENSP00000332247.2:p.His130Tyr | |
| ENST00000540368.6:n.419C>T | ||
| ENST00000613625.5:c.388C>T | ENSP00000482236.1:p.His130Tyr | |
| ENST00000675344.1:c.388C>T | ENSP00000501953.1:p.His130Tyr | |
| ENST00000330342.7:c.388C>T | ENSP00000332247.2:p.His130Tyr | |
| ENST00000504192.2:c.-3C>T | ENSP00000443441.1:n.-3C>T | |
| ENST00000540368.5:n.598C>T | ||
| ENST00000613625.4:c.388C>T | ENSP00000482236.1:p.His130Tyr | |
| NM_012463.3:c.388C>T | NP_036595.2:p.His130Tyr | |
| XM_005253563.1:c.388C>T | XP_005253620.1:p.His130Tyr | |
| XM_006719317.2:c.-37C>T | XP_006719380.1:n.-37C>T | |
| XR_429088.1:n.551C>T | ||
| XM_024448910.1:c.388C>T | XP_024304678.1:p.His130Tyr | |
| XM_024448911.1:c.-37C>T | XP_024304679.1:n.-37C>T | |
| NM_012463.4:c.388C>T MANE Select | NP_036595.2:p.His130Tyr |