dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00011906 (EAS)
Exomes Max Group AF
0.00011209 (EAS)
Revel Score:
ENST00000375651 (MANE Select)
0.263
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31815978T>G , CM000668.2:g.31815978T>G | GRCh38 |
| NC_000006.11:g.31783755T>G , CM000668.1:g.31783755T>G | GRCh37 |
| NC_000006.10:g.31891734T>G | NCBI36 |
| NG_011855.1:g.4081A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375651.7:c.222T>G (HSPA1A) MANE Select | ENSP00000364802.5:p.Ile74Met | |
| ENST00000375651.6:c.222T>G (HSPA1A) | ENSP00000364802.5:p.Ile74Met | |
| ENST00000608703.1:c.75+147T>G (HSPA1A) | ENSP00000477378.1:n.75+147T>G | |
| NM_005345.5:c.222T>G (HSPA1A) | NP_005336.3:p.Ile74Met | |
| XM_005249073.2:c.-13-3993A>C (HSPA1L) | XP_005249130.1:n.-13-3993A>C | |
| XM_011514566.1:c.-13-3993A>C (HSPA1L) | XP_011512868.1:n.-13-3993A>C | |
| NM_005345.6:c.222T>G (HSPA1A) MANE Select | NP_005336.3:p.Ile74Met |