gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.116250532G>C , CM000668.2:g.116250532G>C | GRCh38 |
| NC_000006.11:g.116571695G>C , CM000668.1:g.116571695G>C | GRCh37 |
| NC_000006.10:g.116678388G>C | NCBI36 |
| NG_033266.3:g.1381G>C | |
| NG_033266.4:g.1362G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420283.3:c.*2232C>G MANE Select | ENSP00000410943.1:n.*2232C>G | |
| ENST00000420283.2:c.*2232C>G | ENSP00000410943.1:n.*2232C>G | |
| NM_021648.4:c.*2232C>G | NP_067680.3:n.*2232C>G | |
| NM_021648.5:c.*2232C>G MANE Select | NP_067680.3:n.*2232C>G |