gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.39690859C>G , CM000670.2:g.39690859C>G | GRCh38 |
| NC_000008.10:g.39548378C>G , CM000670.1:g.39548378C>G | GRCh37 |
| NC_000008.9:g.39667535C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265707.10:c.1822-1741C>G MANE Select | ENSP00000265707.5:n.1822-1741C>G | |
| ENST00000265707.9:c.1822-1741C>G | ENSP00000265707.5:n.1822-1741C>G | |
| ENST00000379866.5:c.1750-1741C>G | ENSP00000369195.1:n.1750-1741C>G | |
| ENST00000520087.5:c.1460-1741C>G | ENSP00000428083.1:n.1460-1741C>G | |
| ENST00000523755.5:n.284-1741C>G | ||
| ENST00000524117.1:n.240-1741C>G | ||
| NM_014237.2:c.1822-1741C>G | NP_055052.1:n.1822-1741C>G | |
| XR_247133.2:n.1581-1741C>G | ||
| NM_001320313.1:c.1750-1741C>G | NP_001307242.1:n.1750-1741C>G | |
| NR_135201.1:n.1515-1741C>G | ||
| NM_014237.3:c.1822-1741C>G MANE Select | NP_055052.1:n.1822-1741C>G | |
| NM_001320313.2:c.1750-1741C>G | NP_001307242.1:n.1750-1741C>G | |
| NR_135201.2:n.1515-1741C>G |