Linked Data
dbSNP Id:
rs1435054815
gnomAD v2:
6-31784769-C-T
gnomAD v3:
6-31816992-C-T
gnomAD v4:
6-31816992-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31816992C>T , CM000668.2:g.31816992C>T | GRCh38 |
| NC_000006.11:g.31784769C>T , CM000668.1:g.31784769C>T | GRCh37 |
| NC_000006.10:g.31892748C>T | NCBI36 |
| NG_011855.1:g.3067G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375651.7:c.1236C>T (HSPA1A) MANE Select | ENSP00000364802.5:p.Ala412= | |
| ENST00000375651.6:c.1236C>T (HSPA1A) | ENSP00000364802.5:p.Ala412= | |
| ENST00000608703.1:c.741C>T (HSPA1A) | ENSP00000477378.1:p.Ala247= | |
| NM_005345.5:c.1236C>T (HSPA1A) | NP_005336.3:p.Ala412= | |
| XM_005249073.2:c.-14+4021G>A (HSPA1L) | XP_005249130.1:n.-14+4021G>A | |
| XM_011514566.1:c.-14+4021G>A (HSPA1L) | XP_011512868.1:n.-14+4021G>A | |
| NM_005345.6:c.1236C>T (HSPA1A) MANE Select | NP_005336.3:p.Ala412= |