gnomAD v4:
Joint Max Group AF
0.00000155 (NFE)
Exomes Max Group AF
0.00000226 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240576190C>T , CM000664.2:g.240576190C>T | GRCh38 |
| NC_000002.11:g.241515607C>T , CM000664.1:g.241515607C>T | GRCh37 |
| NC_000002.10:g.241164280C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270357.10:c.1511-345C>T MANE Select | ENSP00000270357.4:n.1511-345C>T | |
| ENST00000270357.8:c.818-345C>T | ENSP00000270357.3:n.818-345C>T | |
| ENST00000437406.1:c.110-378C>T | ENSP00000403319.1:n.110-378C>T | |
| ENST00000451363.5:c.152-345C>T | ENSP00000414661.1:n.152-345C>T | |
| ENST00000464550.5:n.347-345C>T | ||
| ENST00000471657.1:n.314-345C>T | ||
| ENST00000481757.5:n.2100C>T | ||
| ENST00000486058.5:n.1624-345C>T | ||
| ENST00000493398.5:n.657-345C>T | ||
| NM_018226.4:c.1511-345C>T | NP_060696.4:n.1511-345C>T | |
| XM_005247036.3:c.1511-378C>T | XP_005247093.1:n.1511-378C>T | |
| NM_018226.5:c.1511-345C>T | NP_060696.4:n.1511-345C>T | |
| XM_005247036.4:c.1511-378C>T | XP_005247093.1:n.1511-378C>T | |
| NM_018226.6:c.1511-345C>T MANE Select | NP_060696.4:n.1511-345C>T |