gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.88156253 (EAS)
Genomes Max Group AF
0.88156253 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.112083644G>A , CM000674.2:g.112083644G>A | GRCh38 |
| NC_000012.11:g.112521448G>A , CM000674.1:g.112521448G>A | GRCh37 |
| NC_000012.10:g.111005831G>A | NCBI36 |
| NG_017071.1:g.30188C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261745.9:c.403-2510C>T MANE Select | ENSP00000261745.4:n.403-2510C>T | |
| ENST00000261745.8:c.403-2510C>T | ENSP00000261745.4:n.403-2510C>T | |
| ENST00000547133.1:c.287-2510C>T | ||
| ENST00000549711.5:c.284-2510C>T | ENSP00000448200.1:n.284-2510C>T | |
| ENST00000551858.1:c.*490-2510C>T | ENSP00000446719.1:n.*490-2510C>T | |
| ENST00000552527.5:n.415-2510C>T | ||
| NM_024953.3:c.403-2510C>T | NP_079229.2:n.403-2510C>T | |
| XM_005253938.1:c.-6-2510C>T | XP_005253995.1:n.-6-2510C>T | |
| XM_006719606.1:c.319-2510C>T | XP_006719669.1:n.319-2510C>T | |
| XR_243023.2:n.652-2510C>T | ||
| XR_944730.1:n.652-2510C>T | ||
| XR_944731.1:n.652-2510C>T | ||
| XM_006719606.2:c.319-2510C>T | XP_006719669.1:n.319-2510C>T | |
| XM_017019977.1:c.-644-2510C>T | XP_016875466.1:n.-644-2510C>T | |
| XR_002957380.1:n.434-2510C>T | ||
| XR_243023.4:n.434-2510C>T | ||
| XR_944730.3:n.434-2510C>T | ||
| XR_944731.3:n.434-2510C>T | ||
| NM_024953.4:c.403-2510C>T MANE Select | NP_079229.2:n.403-2510C>T |