Linked Data
dbSNP Id:
rs8321
ExAC:
6:30032522 A / C
gnomAD v2:
6-30032522-A-C
gnomAD v3:
6-30064745-A-C
gnomAD v4:
6-30064745-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.30064745A>C , CM000668.2:g.30064745A>C | GRCh38 |
| NC_000006.11:g.30032522A>C , CM000668.1:g.30032522A>C | GRCh37 |
| NC_000006.10:g.30140501A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000332435.10:c.*48A>C MANE Select | ENSP00000331111.5:n.*48A>C | |
| ENST00000332435.9:c.*48A>C | ENSP00000331111.5:n.*48A>C | |
| ENST00000359374.8:c.*48A>C | ENSP00000352333.4:n.*48A>C | |
| ENST00000376782.6:c.*48A>C | ENSP00000365978.2:n.*48A>C | |
| ENST00000376785.2:c.*48A>C | ENSP00000365981.2:n.*48A>C | |
| ENST00000463141.1:n.407A>C | ||
| ENST00000471008.5:n.3508A>C | ||
| NM_001278785.1:c.*48A>C | NP_001265714.1:n.*48A>C | |
| NM_001278786.1:c.*48A>C | NP_001265715.1:n.*48A>C | |
| NM_014596.5:c.*48A>C | NP_055411.1:n.*48A>C | |
| NM_170783.3:c.*48A>C | NP_740753.1:n.*48A>C | |
| NR_103864.1:n.497A>C | ||
| NM_170783.4:c.*48A>C MANE Select | NP_740753.1:n.*48A>C | |
| NM_001278785.2:c.*48A>C | NP_001265714.1:n.*48A>C | |
| NM_001278786.2:c.*48A>C | NP_001265715.1:n.*48A>C | |
| NM_014596.6:c.*48A>C | NP_055411.1:n.*48A>C | |
| NR_103864.2:n.472A>C |