Linked Data
dbSNP Id:
rs760930067
ExAC:
12:58144326 G / A
gnomAD v2:
12-58144326-G-A
gnomAD v3:
12-57750543-G-A
gnomAD v4:
12-57750543-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57750543G>A , CM000674.2:g.57750543G>A | GRCh38 |
| NC_000012.11:g.58144326G>A , CM000674.1:g.58144326G>A | GRCh37 |
| NC_000012.10:g.56430593G>A | NCBI36 |
| NG_007484.2:g.6839C>T , LRG_490:g.6839C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257904.11:c.632+113C>T MANE Select | ENSP00000257904.5:n.632+113C>T | |
| ENST00000257904.10:c.632+113C>T | ENSP00000257904.5:n.632+113C>T | |
| ENST00000312990.10:c.280+113C>T | ENSP00000316889.6:n.280+113C>T | |
| ENST00000546489.5:c.410+113C>T | ENSP00000447779.1:n.410+113C>T | |
| ENST00000547281.5:c.410+113C>T | ENSP00000447274.1:n.410+113C>T | |
| ENST00000549606.5:c.-157-1039C>T | ENSP00000447005.1:n.-157-1039C>T | |
| ENST00000550419.5:c.543C>T | ENSP00000448098.1:p.Ala181= | |
| ENST00000551888.5:n.458+113C>T | ||
| ENST00000553237.5:c.*271+113C>T | ENSP00000448885.1:n.*271+113C>T | |
| NM_000075.3:c.632+113C>T | NP_000066.1:n.632+113C>T | |
| NM_000075.4:c.632+113C>T MANE Select | NP_000066.1:n.632+113C>T |