gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.75719511 (EAS)
Genomes Max Group AF
0.75719511 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.64993776T>C , CM000664.2:g.64993776T>C | GRCh38 |
| NC_000002.11:g.65220910T>C , CM000664.1:g.65220910T>C | GRCh37 |
| NC_000002.10:g.65074414T>C | NCBI36 |
| NG_053002.1:g.10332T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234256.4:c.527+3606T>C MANE Select | ENSP00000234256.3:n.527+3606T>C | |
| ENST00000234256.3:c.527+3606T>C | ENSP00000234256.3:n.527+3606T>C | |
| ENST00000471551.5:n.131+5156T>C | ||
| ENST00000493121.5:n.144+5156T>C | ||
| ENST00000531327.5:c.-134+5156T>C | ENSP00000431942.1:n.-134+5156T>C | |
| NM_001193493.1:c.-134+5156T>C | NP_001180422.1:n.-134+5156T>C | |
| NM_003038.4:c.527+3606T>C | NP_003029.2:n.527+3606T>C | |
| XM_006712079.1:c.-134+5156T>C | XP_006712142.1:n.-134+5156T>C | |
| NM_001348406.1:c.-134+5156T>C | NP_001335335.1:n.-134+5156T>C | |
| NM_001348407.1:c.-134+5222T>C | NP_001335336.1:n.-134+5222T>C | |
| XR_002959394.1:n.563-21737A>G | ||
| XR_002959395.1:n.622-21737A>G | ||
| XR_002959396.1:n.562-22991A>G | ||
| XR_002959397.1:n.303-21737A>G | ||
| XR_002959398.1:n.562-21737A>G | ||
| XR_002959399.1:n.559-37792A>G | ||
| NM_003038.5:c.527+3606T>C MANE Select | NP_003029.2:n.527+3606T>C | |
| NM_001193493.2:c.-134+5156T>C | NP_001180422.1:n.-134+5156T>C | |
| NM_001348406.2:c.-134+5156T>C | NP_001335335.1:n.-134+5156T>C | |
| NM_001348407.2:c.-134+5222T>C | NP_001335336.1:n.-134+5222T>C |