gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.23410591 (NFE)
Genomes Max Group AF
0.23410591 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.74007677T>C , CM000670.2:g.74007677T>C | GRCh38 |
| NC_000008.10:g.74919912T>C , CM000670.1:g.74919912T>C | GRCh37 |
| NC_000008.9:g.75082466T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284818.7:c.203-2324T>C MANE Select | ENSP00000284818.2:n.203-2324T>C | |
| ENST00000284818.6:c.203-2324T>C | ENSP00000284818.2:n.203-2324T>C | |
| ENST00000518893.1:c.113-2324T>C | ENSP00000430533.1:n.113-2324T>C | |
| NM_001195797.1:c.113-2324T>C | NP_001182726.1:n.113-2324T>C | |
| NM_015364.4:c.203-2324T>C | NP_056179.3:n.203-2324T>C | |
| XM_011517508.1:c.203-2324T>C | XP_011515810.1:n.203-2324T>C | |
| XM_011517508.2:c.203-2324T>C | XP_011515810.1:n.203-2324T>C | |
| XM_017013299.1:c.203-2324T>C | XP_016868788.1:n.203-2324T>C | |
| XM_017013300.1:c.113-2324T>C | XP_016868789.1:n.113-2324T>C | |
| NM_015364.5:c.203-2324T>C MANE Select | NP_056179.4:n.203-2324T>C | |
| NM_001195797.2:c.113-2324T>C | NP_001182726.1:n.113-2324T>C |