gnomAD v3:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.64227477C>A , CM000676.2:g.64227477C>A | GRCh38 |
| NC_000014.8:g.64694195C>A , CM000676.1:g.64694195C>A | GRCh37 |
| NC_000014.7:g.63763948C>A | NCBI36 |
| NG_011535.1:g.116074G>T | |
| NG_011756.1:g.379513C>A | |
| NG_011756.2:g.470579C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353772.7:c.*56G>T | ENSP00000335551.4:n.*56G>T | |
| ENST00000358599.9:c.*56G>T | ENSP00000351412.5:n.*56G>T | |
| ENST00000554572.5:c.*56G>T | ENSP00000450699.1:n.*56G>T | |
| ENST00000555278.5:c.1859G>T | ENSP00000450488.1:n.1859G>T | |
| ENST00000556275.5:c.1406+7493G>T | ENSP00000452485.2:n.1406+7493G>T | |
| NM_001040275.1:c.*56G>T | NP_001035365.1:n.*56G>T | |
| NM_001214902.1:c.*413G>T | NP_001201831.1:n.*413G>T | |
| NM_001291712.1:c.*56G>T | NP_001278641.1:n.*56G>T | |
| NM_001291723.1:c.*56G>T | NP_001278652.1:n.*56G>T | |
| NR_073496.1:n.2148G>T | ||
| XM_011536545.1:c.1406+7493G>T | XP_011534847.1:n.1406+7493G>T | |
| XM_017021084.1:c.*56G>T | XP_016876573.1:n.*56G>T | |
| XR_001750187.1:n.1980G>T | ||
| NM_001291712.2:c.*56G>T | NP_001278641.1:n.*56G>T | |
| NR_073496.2:n.2211G>T |