Linked Data
dbSNP Id:
rs370442852
ExAC:
6:108883043 A / C
gnomAD v2:
6-108883043-A-C
gnomAD v4:
6-108561840-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.108561840A>C , CM000668.2:g.108561840A>C | GRCh38 |
| NC_000006.11:g.108883043A>C , CM000668.1:g.108883043A>C | GRCh37 |
| NC_000006.10:g.108989736A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000406360.2:c.621+11A>C MANE Select | ENSP00000385824.1:n.621+11A>C | |
| ENST00000343882.10:c.621+11A>C | ENSP00000339527.6:n.621+11A>C | |
| ENST00000406360.1:c.621+11A>C | ENSP00000385824.1:n.621+11A>C | |
| NM_001455.3:c.621+11A>C | NP_001446.1:n.621+11A>C | |
| NM_201559.2:c.621+11A>C | NP_963853.1:n.621+11A>C | |
| XM_005266867.3:c.-64+11A>C | XP_005266924.1:n.-64+11A>C | |
| XM_005266867.4:c.-64+11A>C | XP_005266924.1:n.-64+11A>C | |
| NM_001455.4:c.621+11A>C MANE Select | NP_001446.1:n.621+11A>C | |
| NM_201559.3:c.621+11A>C | NP_963853.1:n.621+11A>C |