gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.41957421G>C , CM000668.2:g.41957421G>C | GRCh38 |
| NC_000006.11:g.41925159G>C , CM000668.1:g.41925159G>C | GRCh37 |
| NC_000006.10:g.42033137G>C | NCBI36 |
| NG_041939.1:g.96474C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372988.8:c.-45-16836C>G | ENSP00000362079.4:n.-45-16836C>G | |
| ENST00000415497.6:c.-174-20027C>G | ENSP00000401595.2:n.-174-20027C>G | |
| ENST00000502771.1:c.-45-16836C>G | ENSP00000425334.1:n.-45-16836C>G | |
| ENST00000505672.5:n.177-16836C>G | ||
| ENST00000505884.5:n.373-20027C>G | ||
| ENST00000508143.5:c.-174-20027C>G | ENSP00000423242.1:n.-174-20027C>G | |
| ENST00000510503.5:c.-45-16836C>G | ENSP00000425986.1:n.-45-16836C>G | |
| ENST00000511161.5:n.191-20027C>G | ||
| ENST00000511642.5:c.-45-16836C>G | ENSP00000426212.1:n.-45-16836C>G | |
| ENST00000511686.5:n.205-20027C>G | ||
| ENST00000513956.5:n.191-20027C>G | ||
| ENST00000514382.5:n.189-16836C>G | ||
| ENST00000514588.1:c.-162-16260C>G | ENSP00000420991.1:n.-162-16260C>G | |
| ENST00000616010.4:c.-174-20027C>G | ENSP00000484424.1:n.-174-20027C>G | |
| NM_001136017.3:c.-45-16836C>G | NP_001129489.1:n.-45-16836C>G | |
| NM_001136126.2:c.-174-20027C>G | NP_001129598.1:n.-174-20027C>G | |
| NM_001287434.1:c.-174-20027C>G | NP_001274363.1:n.-174-20027C>G | |
| XM_011514972.1:c.-45-16836C>G | XP_011513274.1:n.-45-16836C>G | |
| NM_001136126.3:c.-174-20027C>G | NP_001129598.1:n.-174-20027C>G | |
| NM_001287434.2:c.-174-20027C>G | NP_001274363.1:n.-174-20027C>G |