Linked Data
dbSNP Id:
rs1283292418
gnomAD v2:
6-32627555-G-T
gnomAD v3:
6-32659778-G-T
gnomAD v4:
6-32659778-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32659778G>T , CM000668.2:g.32659778G>T | GRCh38 |
| NC_000006.11:g.32627555G>T , CM000668.1:g.32627555G>T | GRCh37 |
| NC_000006.10:g.32735533G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000434651.7:c.*458C>A MANE Select | ENSP00000407332.2:n.*458C>A | |
| ENST00000374943.8:c.*458C>A | ENSP00000364080.4:n.*458C>A | |
| ENST00000399079.7:c.*458C>A | ENSP00000382029.3:n.*458C>A | |
| ENST00000399082.7:c.*458C>A | ENSP00000382032.3:n.*458C>A | |
| ENST00000399084.5:c.*458C>A | ENSP00000382034.1:n.*458C>A | |
| ENST00000434651.6:c.*458C>A | ENSP00000407332.2:n.*458C>A | |
| ENST00000487676.1:n.4333C>A | ||
| NM_001243961.1:c.*458C>A | NP_001230890.1:n.*458C>A | |
| NM_002123.4:c.*458C>A | NP_002114.3:n.*458C>A | |
| NM_001243961.2:c.*458C>A | NP_001230890.1:n.*458C>A | |
| NM_002123.5:c.*458C>A MANE Select | NP_002114.3:n.*458C>A |