Linked Data
gnomAD v4:
6-31816783-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31816783A>C , CM000668.2:g.31816783A>C | GRCh38 |
| NC_000006.11:g.31784560A>C , CM000668.1:g.31784560A>C | GRCh37 |
| NC_000006.10:g.31892539A>C | NCBI36 |
| NG_011855.1:g.3276T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375651.7:c.1027A>C (HSPA1A) MANE Select | ENSP00000364802.5:p.Ile343Leu | |
| ENST00000375651.6:c.1027A>C (HSPA1A) | ENSP00000364802.5:p.Ile343Leu | |
| ENST00000608703.1:c.532A>C (HSPA1A) | ENSP00000477378.1:p.Ile178Leu | |
| NM_005345.5:c.1027A>C (HSPA1A) | NP_005336.3:p.Ile343Leu | |
| XM_005249073.2:c.-14+4230T>G (HSPA1L) | XP_005249130.1:n.-14+4230T>G | |
| XM_011514566.1:c.-14+4230T>G (HSPA1L) | XP_011512868.1:n.-14+4230T>G | |
| NM_005345.6:c.1027A>C (HSPA1A) MANE Select | NP_005336.3:p.Ile343Leu |