gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.8297296G>T , CM000682.2:g.8297296G>T | GRCh38 |
| NC_000020.10:g.8277943G>T , CM000682.1:g.8277943G>T | GRCh37 |
| NC_000020.9:g.8225943G>T | NCBI36 |
| NG_028168.1:g.169648G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338037.11:c.178-74086G>T MANE Select | ENSP00000338185.6:n.178-74086G>T | |
| ENST00000636319.1:c.178-74086G>T | ENSP00000490455.1:n.178-74086G>T | |
| ENST00000637204.1:c.60-74086G>T | ||
| ENST00000637919.1:c.-126-74086G>T | ENSP00000490862.1:n.-126-74086G>T | |
| ENST00000338037.10:c.178-74086G>T | ENSP00000338185.6:n.178-74086G>T | |
| ENST00000378637.6:c.178-74086G>T | ENSP00000367904.2:n.178-74086G>T | |
| ENST00000378641.7:c.178-74086G>T | ENSP00000367908.3:n.178-74086G>T | |
| ENST00000404098.6:c.178-74086G>T | ENSP00000384001.3:n.178-74086G>T | |
| ENST00000625874.2:c.-126-74086G>T | ENSP00000486301.1:n.-126-74086G>T | |
| ENST00000626161.1:n.314-74086G>T | ||
| ENST00000629992.2:c.178-74086G>T | ENSP00000486531.1:n.178-74086G>T | |
| ENST00000630495.2:c.-126-74086G>T | ENSP00000486655.1:n.-126-74086G>T | |
| ENST00000630757.1:n.73-74086G>T | ||
| NM_015192.3:c.178-74086G>T | NP_056007.1:n.178-74086G>T | |
| NM_182734.2:c.178-74086G>T | NP_877398.1:n.178-74086G>T | |
| XM_011529199.1:c.178-74086G>T | XP_011527501.1:n.178-74086G>T | |
| XM_011529202.1:c.178-74086G>T | XP_011527504.1:n.178-74086G>T | |
| NM_015192.4:c.178-74086G>T MANE Select | NP_056007.1:n.178-74086G>T | |
| NM_182734.3:c.178-74086G>T | NP_877398.1:n.178-74086G>T |