gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4368914T>G , CM000674.2:g.4368914T>G | GRCh38 |
| NC_000012.11:g.4478080T>G , CM000674.1:g.4478080T>G | GRCh37 |
| NC_000012.10:g.4348341T>G | NCBI36 |
| NG_007087.1:g.15815A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000237837.2:c.*1429A>C MANE Select | ENSP00000237837.1:n.*1429A>C | |
| ENST00000648100.1:c.*1967+2632T>G | ENSP00000497536.1:n.*1967+2632T>G | |
| ENST00000674624.1:c.*1204+2632T>G | ENSP00000501898.1:n.*1204+2632T>G | |
| ENST00000237837.1:c.*1429A>C | ENSP00000237837.1:n.*1429A>C | |
| NM_020638.2:c.*1429A>C | NP_065689.1:n.*1429A>C | |
| NM_020638.3:c.*1429A>C MANE Select | NP_065689.1:n.*1429A>C |