gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00003703 (SAS)
Exomes Max Group AF
0.00003894 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.73404285T>C , CM000666.2:g.73404285T>C | GRCh38 |
| NC_000004.11:g.74270002T>C , CM000666.1:g.74270002T>C | GRCh37 |
| NC_000004.10:g.74488866T>C | NCBI36 |
| NG_009291.1:g.5031T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295897.8:c.-43T>C | ENSP00000295897.4:n.-43T>C | |
| ENST00000441319.5:c.48-84T>C | ENSP00000392541.1:n.48-84T>C | |
| ENST00000621628.4:c.-43T>C | ENSP00000480485.1:n.-43T>C | |
| NM_000477.5:c.-43T>C | NP_000468.1:n.-43T>C | |
| NM_000477.6:c.-43T>C | NP_000468.1:n.-43T>C |