gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.68004743 (NFE)
Genomes Max Group AF
0.68004743 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.184718015G>A , CM000666.2:g.184718015G>A | GRCh38 |
| NC_000004.11:g.185639169G>A , CM000666.1:g.185639169G>A | GRCh37 |
| NC_000004.10:g.185876163G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281453.10:c.321-819C>T MANE Select | ENSP00000281453.5:n.321-819C>T | |
| ENST00000281453.9:c.321-819C>T | ENSP00000281453.5:n.321-819C>T | |
| ENST00000510146.5:c.321-819C>T | ENSP00000423248.1:n.321-819C>T | |
| ENST00000514781.1:c.234-819C>T | ENSP00000423167.1:n.234-819C>T | |
| NM_024629.3:c.321-819C>T | NP_078905.2:n.321-819C>T | |
| NR_104593.1:n.391-819C>T | ||
| XM_005263218.3:c.411-819C>T | XP_005263275.2:n.411-819C>T | |
| XM_005263218.4:c.411-819C>T | XP_005263275.2:n.411-819C>T | |
| NM_024629.4:c.321-819C>T MANE Select | NP_078905.2:n.321-819C>T | |
| NR_104593.2:n.355-819C>T |