gnomAD v3:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32757416A>C , CM000668.2:g.32757416A>C | GRCh38 |
| NC_000006.11:g.32725193A>C , CM000668.1:g.32725193A>C | GRCh37 |
| NC_000006.10:g.32833171A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000437316.7:c.758-112T>G MANE Select | ENSP00000396330.2:n.758-112T>G | |
| ENST00000411527.5:c.647-112T>G | ENSP00000390431.1:n.647-112T>G | |
| ENST00000427449.1:c.643-950T>G | ||
| ENST00000435145.6:c.758-112T>G | ENSP00000410512.2:n.758-112T>G | |
| ENST00000437316.6:c.758-112T>G | ENSP00000396330.2:n.758-112T>G | |
| NM_001198858.1:c.647-112T>G | NP_001185787.1:n.647-112T>G | |
| NM_001300790.1:c.758-112T>G | NP_001287719.1:n.758-112T>G | |
| XM_005249051.3:c.758-112T>G | XP_005249108.1:n.758-112T>G | |
| XM_011514560.1:c.757+357T>G | XP_011512862.1:n.757+357T>G | |
| XM_011514561.1:c.647-950T>G | XP_011512863.1:n.647-950T>G | |
| XM_005249051.4:c.758-112T>G | XP_005249108.1:n.758-112T>G | |
| XM_011514560.2:c.757+357T>G | XP_011512862.1:n.757+357T>G | |
| XM_011514561.3:c.647-950T>G | XP_011512863.1:n.647-950T>G | |
| NM_001300790.2:c.758-112T>G MANE Select | NP_001287719.1:n.758-112T>G | |
| NM_001198858.2:c.647-112T>G | NP_001185787.1:n.647-112T>G |