gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.37483920G>C , CM000668.2:g.37483920G>C | GRCh38 |
| NC_000006.11:g.37451696G>C , CM000668.1:g.37451696G>C | GRCh37 |
| NC_000006.10:g.37559674G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373408.4:c.191-631C>G MANE Select | ENSP00000362507.3:n.191-631C>G | |
| ENST00000373408.3:c.191-631C>G | ENSP00000362507.3:n.191-631C>G | |
| NM_138493.2:c.191-631C>G | NP_612502.1:n.191-631C>G | |
| NM_138493.3:c.191-631C>G MANE Select | NP_612502.1:n.191-631C>G |