Linked Data
dbSNP Id:
rs781522495
ExAC:
6:132172376 C / T
gnomAD v2:
6-132172376-C-T
gnomAD v3:
6-131851236-C-T
gnomAD v4:
6-131851236-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131851236C>T , CM000668.2:g.131851236C>T | GRCh38 |
| NC_000006.11:g.132172376C>T , CM000668.1:g.132172376C>T | GRCh37 |
| NC_000006.10:g.132214069C>T | NCBI36 |
| NG_008206.1:g.48221C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647893.1:c.525C>T MANE Select | ENSP00000498074.1:p.Asp175= | |
| ENST00000650147.1:c.203C>T | ||
| ENST00000650437.1:c.108+1130C>T | ||
| ENST00000360971.6:c.525C>T | ENSP00000354238.2:p.Asp175= | |
| ENST00000486853.1:n.545C>T | ||
| ENST00000513998.5:c.525C>T | ENSP00000422424.1:p.Asp175= | |
| NM_006208.2:c.525C>T | NP_006199.2:p.Asp175= | |
| NM_006208.3:c.525C>T MANE Select | NP_006199.2:p.Asp175= |