gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000247 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
8.4e-7 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.132642586C>T , CM000674.2:g.132642586C>T | GRCh38 |
| NC_000012.11:g.133219172C>T , CM000674.1:g.133219172C>T | GRCh37 |
| NC_000012.10:g.131729245C>T | NCBI36 |
| NG_033840.1:g.49939G>A , LRG_789:g.49939G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000416953.3:n.2495G>A | ||
| ENST00000544870.6:c.2545G>A | ENSP00000479927.2:n.2545G>A | |
| ENST00000699981.1:n.2526G>A | ||
| ENST00000699982.1:c.4726G>A | ||
| ENST00000699983.1:c.5430G>A | ||
| ENST00000699984.1:c.4726G>A | ||
| ENST00000320574.10:c.4872G>A MANE Select | ENSP00000322570.5:p.Trp1624Ter | |
| ENST00000672002.1:c.2545G>A | ENSP00000500233.1:n.2545G>A | |
| ENST00000672742.1:c.*5078G>A | ENSP00000500279.1:n.*5078G>A | |
| ENST00000320574.9:c.4872G>A | ENSP00000322570.5:p.Trp1624Ter | |
| ENST00000535270.5:c.4791G>A | ENSP00000445753.1:p.Trp1597Ter | |
| ENST00000537064.5:c.*4623G>A | ENSP00000442578.1:n.*4623G>A | |
| NM_006231.3:c.4872G>A , LRG_789t1:c.4872G>A | NP_006222.2:p.Trp1624Ter | |
| XM_011534795.1:c.4872G>A | XP_011533097.1:p.Trp1624Ter | |
| XM_011534796.1:c.4743G>A | XP_011533098.1:p.Trp1581Ter | |
| XM_011534797.1:c.3951G>A | XP_011533099.1:p.Trp1317Ter | |
| XM_011534798.1:c.3534G>A | XP_011533100.1:p.Trp1178Ter | |
| XM_011534799.1:c.4872G>A | XP_011533101.1:p.Trp1624Ter | |
| XM_011534800.1:c.4872G>A | XP_011533102.1:p.Trp1624Ter | |
| XM_011534802.1:c.1860G>A | XP_011533104.1:p.Trp620Ter | |
| XM_011534795.3:c.4872G>A | XP_011533097.1:p.Trp1624Ter | |
| XM_011534797.3:c.3951G>A | XP_011533099.1:p.Trp1317Ter | |
| XM_011534799.2:c.4872G>A | XP_011533101.1:p.Trp1624Ter | |
| XM_011534802.3:c.1860G>A | XP_011533104.1:p.Trp620Ter | |
| XR_002957338.1:n.5076G>A | ||
| XR_002957339.1:n.5076G>A | ||
| XR_941395.2:n.5125G>A | ||
| NM_006231.4:c.4872G>A MANE Select | NP_006222.2:p.Trp1624Ter |