Linked Data
dbSNP Id:
rs2233945
gnomAD v2:
6-31107361-C-A
gnomAD v3:
6-31139584-C-A
gnomAD v4:
6-31139584-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31139584C>A , CM000668.2:g.31139584C>A | GRCh38 |
| NC_000006.11:g.31107361C>A , CM000668.1:g.31107361C>A | GRCh37 |
| NC_000006.10:g.31215340C>A | NCBI36 |
| NG_021348.1:g.29754C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000259881.10:c.168-57C>A MANE Select | ENSP00000259881.9:n.168-57C>A | |
| ENST00000259881.9:c.168-57C>A | ENSP00000259881.9:n.168-57C>A | |
| ENST00000479581.5:n.62-57C>A | ||
| ENST00000481450.2:c.-22-57C>A | ENSP00000447158.1:n.-22-57C>A | |
| ENST00000547221.1:c.24-57C>A | ENSP00000449471.1:n.24-57C>A | |
| NM_014068.2:c.168-57C>A | NP_054787.2:n.168-57C>A | |
| NM_014068.3:c.168-57C>A MANE Select | NP_054787.2:n.168-57C>A |