gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88746706G>C , CM000678.2:g.88746706G>C | GRCh38 |
| NC_000016.9:g.88813114G>C , CM000678.1:g.88813114G>C | GRCh37 |
| NC_000016.8:g.87340615G>C | NCBI36 |
| NG_042229.1:g.43515C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301015.14:c.160+2678C>G MANE Select | ENSP00000301015.9:n.160+2678C>G | |
| ENST00000301015.13:c.160+2678C>G | ENSP00000301015.9:n.160+2678C>G | |
| NM_001142864.2:c.160+2678C>G | NP_001136336.2:n.160+2678C>G | |
| NM_001142864.3:c.160+2678C>G | NP_001136336.2:n.160+2678C>G | |
| NM_001142864.4:c.160+2678C>G MANE Select | NP_001136336.2:n.160+2678C>G |