gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001327 (AMR)
Exomes Max Group AF
0.00000741 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39202314C>T , CM000679.2:g.39202314C>T | GRCh38 |
| NC_000017.10:g.37358567C>T , CM000679.1:g.37358567C>T | GRCh37 |
| NC_000017.9:g.34612093C>T | NCBI36 |
| NG_052811.1:g.390G>A | |
| NG_053022.1:g.7032C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225430.9:c.113-3C>T MANE Select | ENSP00000225430.4:n.113-3C>T | |
| ENST00000577741.2:n.141-3C>T | ||
| ENST00000585199.2:n.358-3C>T | ||
| ENST00000678012.1:c.113-3C>T | ENSP00000504028.1:n.113-3C>T | |
| ENST00000678147.1:c.117-8C>T | ENSP00000504751.1:n.117-8C>T | |
| ENST00000678189.1:n.1300C>T | ||
| ENST00000678573.1:c.173-3C>T | ENSP00000503598.1:n.173-3C>T | |
| ENST00000678609.1:c.113-3C>T | ENSP00000502971.1:n.113-3C>T | |
| ENST00000678791.1:n.1881C>T | ||
| ENST00000679038.1:c.113-3C>T | ENSP00000504153.1:n.113-3C>T | |
| ENST00000225430.8:c.113-3C>T | ENSP00000225430.4:n.113-3C>T | |
| ENST00000577741.1:n.273C>T | ||
| ENST00000579260.5:c.107-3C>T | ENSP00000464538.1:n.107-3C>T | |
| ENST00000579374.5:c.104-3C>T | ENSP00000463985.1:n.104-3C>T | |
| ENST00000580333.1:n.141-3C>T | ||
| ENST00000582193.5:c.107-3C>T | ENSP00000462938.1:n.107-3C>T | |
| ENST00000585199.1:c.173-3C>T | ENSP00000463329.1:n.173-3C>T | |
| NM_000981.3:c.113-3C>T | NP_000972.1:n.113-3C>T | |
| XM_005257564.2:c.107-3C>T | XP_005257621.1:n.107-3C>T | |
| NM_000981.4:c.113-3C>T MANE Select | NP_000972.1:n.113-3C>T | |
| NM_001330200.1:c.107-3C>T | NP_001317129.1:n.107-3C>T |