gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.176767979G>C , CM000666.2:g.176767979G>C | GRCh38 |
| NC_000004.11:g.177689133G>C , CM000666.1:g.177689133G>C | GRCh37 |
| NC_000004.10:g.177926127G>C | NCBI36 |
| NG_034216.1:g.29767C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000618562.2:c.147+24186C>G MANE Select | ENSP00000480043.1:n.147+24186C>G | |
| ENST00000618562.1:c.147+24186C>G | ENSP00000480043.1:n.147+24186C>G | |
| NM_005429.4:c.147+24186C>G | NP_005420.1:n.147+24186C>G | |
| NM_005429.5:c.147+24186C>G MANE Select | NP_005420.1:n.147+24186C>G |