Linked Data
dbSNP Id:
rs369067810
ExAC:
12:103234147 C / G
gnomAD v2:
12-103234147-C-G
gnomAD v4:
12-102840369-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102840369C>G , CM000674.2:g.102840369C>G | GRCh38 |
| NC_000012.11:g.103234147C>G , CM000674.1:g.103234147C>G | GRCh37 |
| NC_000012.10:g.101758277C>G | NCBI36 |
| NG_008690.1:g.82234G>C | |
| NG_008690.2:g.123042G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.1315+31G>C MANE Select | ENSP00000448059.1:n.1315+31G>C | |
| ENST00000307000.7:c.1300+31G>C | ENSP00000303500.2:n.1300+31G>C | |
| ENST00000551114.2:n.977+31G>C | ||
| ENST00000553106.5:c.1315+31G>C | ENSP00000448059.1:n.1315+31G>C | |
| ENST00000635477.1:c.419+31G>C | ||
| ENST00000635528.1:n.830+31G>C | ||
| NM_000277.1:c.1315+31G>C | NP_000268.1:n.1315+31G>C | |
| XM_011538422.1:c.1258+31G>C | XP_011536724.1:n.1258+31G>C | |
| NM_000277.2:c.1315+31G>C | NP_000268.1:n.1315+31G>C | |
| NM_001354304.1:c.1315+31G>C | NP_001341233.1:n.1315+31G>C | |
| NM_000277.3:c.1315+31G>C MANE Select | NP_000268.1:n.1315+31G>C | |
| NM_001354304.2:c.1315+31G>C | NP_001341233.1:n.1315+31G>C |