gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190408238T>C , CM000665.2:g.190408238T>C | GRCh38 |
| NC_000003.11:g.190126027T>C , CM000665.1:g.190126027T>C | GRCh37 |
| NC_000003.10:g.191608721T>C | NCBI36 |
| NG_008149.1:g.25187T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264734.3:c.383-76T>C MANE Select | ENSP00000264734.3:n.383-76T>C | |
| ENST00000456423.2:c.115-1665T>C | ENSP00000414136.2:n.115-1665T>C | |
| ENST00000264734.2:c.593-76T>C | ENSP00000264734.2:n.593-76T>C | |
| ENST00000456423.1:c.325-1665T>C | ENSP00000414136.1:n.325-1665T>C | |
| NM_006580.3:c.593-76T>C | NP_006571.1:n.593-76T>C | |
| NM_001378492.1:c.383-76T>C | NP_001365421.1:n.383-76T>C | |
| NM_001378493.1:c.383-76T>C | NP_001365422.1:n.383-76T>C | |
| NM_006580.4:c.383-76T>C MANE Select | NP_006571.2:n.383-76T>C |