Linked Data
dbSNP Id:
rs369549262
ExAC:
12:58157870 G / C
gnomAD v2:
12-58157870-G-C
gnomAD v3:
12-57764087-G-C
gnomAD v4:
12-57764087-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57764087G>C , CM000674.2:g.57764087G>C | GRCh38 |
| NC_000012.11:g.58157870G>C , CM000674.1:g.58157870G>C | GRCh37 |
| NC_000012.10:g.56444137G>C | NCBI36 |
| NG_007076.1:g.8107C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000713544.1:c.1296+11C>G | ENSP00000518840.1:n.1296+11C>G | |
| ENST00000713545.1:c.*220+11C>G | ENSP00000518841.1:n.*220+11C>G | |
| ENST00000228606.9:c.1215+11C>G MANE Select | ENSP00000228606.4:n.1215+11C>G | |
| ENST00000228606.8:c.1215+11C>G | ENSP00000228606.4:n.1215+11C>G | |
| ENST00000547344.5:n.1354+11C>G | ||
| NM_000785.3:c.1215+11C>G | NP_000776.1:n.1215+11C>G | |
| NM_000785.4:c.1215+11C>G MANE Select | NP_000776.1:n.1215+11C>G |