Linked Data
dbSNP Id:
rs754745588
ExAC:
8:126056130 A / C
gnomAD v2:
8-126056130-A-C
gnomAD v3:
8-125043888-A-C
gnomAD v4:
8-125043888-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.125043888A>C , CM000670.2:g.125043888A>C | GRCh38 |
| NC_000008.10:g.126056130A>C , CM000670.1:g.126056130A>C | GRCh37 |
| NC_000008.9:g.126125312A>C | NCBI36 |
| NG_012636.1:g.52932T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318410.12:c.2787T>G (WASHC5) MANE Select | ENSP00000318016.7:p.Ile929Met | |
| ENST00000318410.11:c.2787T>G (WASHC5) | ENSP00000318016.7:p.Ile929Met | |
| ENST00000517845.5:c.2343T>G (WASHC5) | ENSP00000429676.1:p.Ile781Met | |
| NM_014846.3:c.2787T>G (WASHC5) | NP_055661.3:p.Ile929Met | |
| XM_005251120.2:c.2343T>G (WASHC5) | XP_005251177.1:p.Ile781Met | |
| XM_011517409.1:c.2787T>G (WASHC5) | XP_011515711.1:p.Ile929Met | |
| XM_011517410.1:c.2787T>G (WASHC5) | XP_011515712.1:p.Ile929Met | |
| NM_001330609.1:c.2343T>G (WASHC5) | NP_001317538.1:p.Ile781Met | |
| XM_017014113.2:c.2787T>G (WASHC5) | XP_016869602.1:p.Ile929Met | |
| NM_014846.4:c.2787T>G (WASHC5) MANE Select | NP_055661.3:p.Ile929Met | |
| NM_001330609.2:c.2343T>G (WASHC5) | NP_001317538.1:p.Ile781Met | |
| NR_170219.1:n.97-611A>C (WASHC5-AS1) |