Linked Data
dbSNP Id:
rs961599919
gnomAD v2:
12-58144116-G-C
gnomAD v3:
12-57750333-G-C
gnomAD v4:
12-57750333-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57750333G>C , CM000674.2:g.57750333G>C | GRCh38 |
| NC_000012.11:g.58144116G>C , CM000674.1:g.58144116G>C | GRCh37 |
| NC_000012.10:g.56430383G>C | NCBI36 |
| NG_007484.2:g.7049C>G , LRG_490:g.7049C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257904.11:c.632+323C>G MANE Select | ENSP00000257904.5:n.632+323C>G | |
| ENST00000257904.10:c.632+323C>G | ENSP00000257904.5:n.632+323C>G | |
| ENST00000312990.10:c.280+323C>G | ENSP00000316889.6:n.280+323C>G | |
| ENST00000546489.5:c.410+323C>G | ENSP00000447779.1:n.410+323C>G | |
| ENST00000547281.5:c.410+323C>G | ENSP00000447274.1:n.410+323C>G | |
| ENST00000549606.5:c.-157-829C>G | ENSP00000447005.1:n.-157-829C>G | |
| ENST00000550419.5:c.*38+109C>G | ENSP00000448098.1:n.*38+109C>G | |
| ENST00000551888.5:n.458+323C>G | ||
| ENST00000553237.5:c.*271+323C>G | ENSP00000448885.1:n.*271+323C>G | |
| NM_000075.3:c.632+323C>G | NP_000066.1:n.632+323C>G | |
| NM_000075.4:c.632+323C>G MANE Select | NP_000066.1:n.632+323C>G |