Linked Data
dbSNP Id:
rs2305560
ExAC:
2:198365788 C / T
gnomAD v2:
2-198365788-C-T
gnomAD v3:
2-197501064-C-T
gnomAD v4:
2-197501064-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.197501064C>T , CM000664.2:g.197501064C>T | GRCh38 |
| NC_000002.11:g.198365788C>T , CM000664.1:g.198365788C>T | GRCh37 |
| NC_000002.10:g.198074033C>T | NCBI36 |
| NG_008914.1:g.6068C>T | |
| NG_008915.1:g.4211G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000233893.10:c.4-10C>T (HSPE1) MANE Select | ENSP00000233893.5:n.4-10C>T | |
| ENST00000426480.2:c.-2-2214G>A (HSPD1) | ENSP00000414446.2:n.-2-2214G>A | |
| ENST00000233893.9:c.4-10C>T (HSPE1) | ENSP00000233893.5:n.4-10C>T | |
| ENST00000409468.1:c.4-10C>T (HSPE1) | ENSP00000386447.1:n.4-10C>T | |
| ENST00000409729.1:c.3+625C>T (HSPE1) | ENSP00000387101.1:n.3+625C>T | |
| ENST00000426480.1:c.125-2214G>A (HSPD1) | ENSP00000414446.1:n.125-2214G>A | |
| ENST00000463841.1:n.183C>T (HSPE1) | ||
| ENST00000465573.1:n.376+146C>T (HSPE1) | ||
| ENST00000473395.1:n.92-10C>T (HSPE1) | ||
| ENST00000495200.1:n.482-10C>T (HSPE1) | ||
| ENST00000604458.1:c.4-10C>T (HSPE1-MOB4) | ENSP00000474534.1:n.4-10C>T | |
| NM_001202485.1:c.4-10C>T (HSPE1-MOB4) | NP_001189414.1:n.4-10C>T | |
| NM_002157.2:c.4-10C>T (HSPE1) | NP_002148.1:n.4-10C>T | |
| NM_002157.3:c.4-10C>T (HSPE1) MANE Select | NP_002148.1:n.4-10C>T | |
| NM_001202485.2:c.4-10C>T (HSPE1-MOB4) | NP_001189414.1:n.4-10C>T |