gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.18327551 (NFE)
Genomes Max Group AF
0.18327551 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50200388C>A , CM000679.2:g.50200388C>A | GRCh38 |
| NC_000017.10:g.48277749C>A , CM000679.1:g.48277749C>A | GRCh37 |
| NC_000017.9:g.45632748C>A | NCBI36 |
| NG_007400.1:g.6252G>T , LRG_1:g.6252G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.104-441G>T MANE Select | ENSP00000225964.6:n.104-441G>T | |
| ENST00000225964.9:c.104-441G>T | ENSP00000225964.5:n.104-441G>T | |
| ENST00000474644.1:n.223-441G>T | ||
| NM_000088.3:c.104-441G>T , LRG_1t1:c.104-441G>T | NP_000079.2:n.104-441G>T | |
| XM_005257058.3:c.104-441G>T | XP_005257115.2:n.104-441G>T | |
| XM_005257059.3:c.104-441G>T | XP_005257116.2:n.104-441G>T | |
| XM_011524341.1:c.104-441G>T | XP_011522643.1:n.104-441G>T | |
| XM_005257058.4:c.104-441G>T | XP_005257115.2:n.104-441G>T | |
| XM_005257059.4:c.104-441G>T | XP_005257116.2:n.104-441G>T | |
| NM_000088.4:c.104-441G>T MANE Select | NP_000079.2:n.104-441G>T |