Linked Data
dbSNP Id:
rs370071580
ExAC:
12:58144396 A / G
gnomAD v2:
12-58144396-A-G
gnomAD v3:
12-57750613-A-G
gnomAD v4:
12-57750613-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57750613A>G , CM000674.2:g.57750613A>G | GRCh38 |
| NC_000012.11:g.58144396A>G , CM000674.1:g.58144396A>G | GRCh37 |
| NC_000012.10:g.56430663A>G | NCBI36 |
| NG_007484.2:g.6769T>C , LRG_490:g.6769T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257904.11:c.632+43T>C MANE Select | ENSP00000257904.5:n.632+43T>C | |
| ENST00000257904.10:c.632+43T>C | ENSP00000257904.5:n.632+43T>C | |
| ENST00000312990.10:c.280+43T>C | ENSP00000316889.6:n.280+43T>C | |
| ENST00000546489.5:c.410+43T>C | ENSP00000447779.1:n.410+43T>C | |
| ENST00000547281.5:c.410+43T>C | ENSP00000447274.1:n.410+43T>C | |
| ENST00000549606.5:c.-157-1109T>C | ENSP00000447005.1:n.-157-1109T>C | |
| ENST00000550419.5:c.523-50T>C | ENSP00000448098.1:n.523-50T>C | |
| ENST00000551888.5:n.458+43T>C | ||
| ENST00000553237.5:c.*271+43T>C | ENSP00000448885.1:n.*271+43T>C | |
| NM_000075.3:c.632+43T>C | NP_000066.1:n.632+43T>C | |
| NM_000075.4:c.632+43T>C MANE Select | NP_000066.1:n.632+43T>C |