gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00179259 (SAS)
Genomes Max Group AF
0.00040913 (SAS)
Exomes Max Group AF
0.00183812 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123722418G>T , CM000674.2:g.123722418G>T | GRCh38 |
| NC_000012.11:g.124206965G>T , CM000674.1:g.124206965G>T | GRCh37 |
| NC_000012.10:g.122772918G>T | NCBI36 |
| NG_012743.1:g.15101G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330342.8:c.264G>T MANE Select | ENSP00000332247.2:p.Ala88= | |
| ENST00000540368.6:n.295G>T | ||
| ENST00000613625.5:c.264G>T | ENSP00000482236.1:p.Ala88= | |
| ENST00000675344.1:c.264G>T | ENSP00000501953.1:p.Ala88= | |
| ENST00000330342.7:c.264G>T | ENSP00000332247.2:p.Ala88= | |
| ENST00000540368.5:n.474G>T | ||
| ENST00000613625.4:c.264G>T | ENSP00000482236.1:p.Ala88= | |
| NM_012463.3:c.264G>T | NP_036595.2:p.Ala88= | |
| XM_005253563.1:c.264G>T | XP_005253620.1:p.Ala88= | |
| XR_429088.1:n.427G>T | ||
| XR_945477.1:n.1099+592C>A | ||
| XR_945478.1:n.1099+592C>A | ||
| XR_945479.1:n.1099+592C>A | ||
| XM_024448910.1:c.264G>T | XP_024304678.1:p.Ala88= | |
| XR_945477.3:n.491+592C>A | ||
| XR_945478.3:n.491+592C>A | ||
| NM_012463.4:c.264G>T MANE Select | NP_036595.2:p.Ala88= |