gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00022305 (EAS)
Genomes Max Group AF
0.00026256 (EAS)
Exomes Max Group AF
0.00017343 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68939605C>T , CM000673.2:g.68939605C>T | GRCh38 |
| NC_000011.9:g.68707073C>T , CM000673.1:g.68707073C>T | GRCh37 |
| NC_000011.8:g.68463649C>T | NCBI36 |
| NG_007976.1:g.40755C>T , LRG_250:g.40755C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.2856C>T MANE Select | ENSP00000255078.4:p.Ala952= | |
| ENST00000675118.1:c.2344C>T | ||
| ENST00000675615.1:c.*55C>T | ENSP00000502413.1:n.*55C>T | |
| ENST00000675648.1:n.2418C>T | ||
| ENST00000675916.1:c.1287C>T | ||
| ENST00000676173.1:n.3601C>T | ||
| ENST00000255078.7:c.2856C>T | ENSP00000255078.3:p.Ala952= | |
| ENST00000543739.5:n.1849C>T | ||
| ENST00000544521.1:n.687C>T | ||
| NM_002180.2:c.2856C>T , LRG_250t1:c.2856C>T | NP_002171.2:p.Ala952= | |
| XM_005273974.2:c.1845C>T | XP_005274031.1:p.Ala615= | |
| XM_005273975.2:c.1728C>T | XP_005274032.1:p.Ala576= | |
| XM_011544994.1:c.1623C>T | XP_011543296.1:p.Ala541= | |
| XR_949903.1:n.3145C>T | ||
| XM_005273975.3:c.1728C>T | XP_005274032.1:p.Ala576= | |
| XM_017017669.2:c.1845C>T | XP_016873158.1:p.Ala615= | |
| XM_017017670.2:c.1845C>T | XP_016873159.1:p.Ala615= | |
| XR_949903.3:n.3141C>T | ||
| NM_002180.3:c.2856C>T MANE Select | NP_002171.2:p.Ala952= |