gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00013693 (EAS)
Genomes Max Group AF
0.00015677 (EAS)
Exomes Max Group AF
0.00009929 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13919184G>A , CM000667.2:g.13919184G>A | GRCh38 |
| NC_000005.9:g.13919293G>A , CM000667.1:g.13919293G>A | GRCh37 |
| NC_000005.8:g.13972293G>A | NCBI36 |
| NG_013081.1:g.30297C>T | |
| NG_013081.2:g.30297C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000680213.2:n.1023C>T | ||
| ENST00000682376.1:n.1011C>T | ||
| ENST00000682586.1:n.1060C>T | ||
| ENST00000683011.1:n.906C>T | ||
| ENST00000683967.1:n.1066C>T | ||
| ENST00000684013.1:n.1066C>T | ||
| ENST00000684099.1:n.1062C>T | ||
| ENST00000265104.5:c.967C>T MANE Select | ENSP00000265104.4:p.Leu323= | |
| ENST00000680213.1:c.727C>T | ENSP00000506622.1:p.Leu243= | |
| ENST00000681290.1:c.922C>T | ENSP00000505288.1:p.Leu308= | |
| ENST00000265104.4:c.967C>T | ENSP00000265104.4:p.Leu323= | |
| ENST00000508040.1:n.1375C>T | ||
| NM_001369.2:c.967C>T | NP_001360.1:p.Leu323= | |
| XM_005248262.2:c.922C>T | XP_005248319.1:p.Leu308= | |
| XM_011513990.1:c.967C>T | XP_011512292.1:p.Leu323= | |
| XR_925598.1:n.1174C>T | ||
| XM_005248262.3:c.1075C>T | XP_005248319.2:p.Leu359= | |
| XM_017009177.1:c.1075C>T | XP_016864666.1:p.Leu359= | |
| XM_017009178.1:c.-21C>T | XP_016864667.1:n.-21C>T | |
| XM_017009180.1:c.1075C>T | XP_016864669.1:p.Leu359= | |
| XM_017009181.1:c.1075C>T | XP_016864670.1:p.Leu359= | |
| XM_017009182.1:c.1075C>T | XP_016864671.1:p.Leu359= | |
| XM_017009183.1:c.1075C>T | XP_016864672.1:p.Leu359= | |
| XM_017009184.1:c.1075C>T | XP_016864673.1:p.Leu359= | |
| XM_017009187.1:c.1075C>T | XP_016864676.1:p.Leu359= | |
| XM_024454388.1:c.-1940C>T | XP_024310156.1:n.-1940C>T | |
| XM_024454389.1:c.-993C>T | XP_024310157.1:n.-993C>T | |
| XR_001742034.1:n.1092C>T | ||
| XR_001742035.1:n.1092C>T | ||
| NM_001369.3:c.967C>T MANE Select | NP_001360.1:p.Leu323= |