Linked Data
dbSNP Id:
rs1450118449
gnomAD v2:
6-132211555-C-T
gnomAD v3:
6-131890415-C-T
gnomAD v4:
6-131890415-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131890415C>T , CM000668.2:g.131890415C>T | GRCh38 |
| NC_000006.11:g.132211555C>T , CM000668.1:g.132211555C>T | GRCh37 |
| NC_000006.10:g.132253248C>T | NCBI36 |
| NG_008206.1:g.87400C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684674.1:n.1113C>T | ||
| ENST00000647893.1:c.2682C>T MANE Select | ENSP00000498074.1:p.His894= | |
| ENST00000360971.6:c.2682C>T | ENSP00000354238.2:p.His894= | |
| ENST00000513998.5:c.*1519C>T | ENSP00000422424.1:n.*1519C>T | |
| NM_006208.2:c.2682C>T | NP_006199.2:p.His894= | |
| XM_011535896.1:c.1572C>T | XP_011534198.1:p.His524= | |
| NM_006208.3:c.2682C>T MANE Select | NP_006199.2:p.His894= |