gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000124 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.56737223A>G , CM000665.2:g.56737223A>G | GRCh38 |
| NC_000003.11:g.56771251A>G , CM000665.1:g.56771251A>G | GRCh37 |
| NC_000003.10:g.56746291A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296315.8:c.1003T>C MANE Select | ENSP00000296315.3:p.Leu335= | |
| ENST00000296315.7:c.1003T>C | ENSP00000296315.3:p.Leu335= | |
| ENST00000338458.8:c.1099T>C | ENSP00000341071.4:p.Leu367= | |
| ENST00000413728.6:c.1021T>C | ENSP00000410922.2:p.Leu341= | |
| ENST00000465659.5:c.1077T>C | ||
| ENST00000495373.5:c.1003T>C | ENSP00000417986.1:p.Leu335= | |
| ENST00000496106.5:c.1021T>C | ENSP00000420420.1:p.Leu341= | |
| ENST00000497267.5:c.916T>C | ENSP00000418826.1:p.Leu306= | |
| NM_001128615.1:c.1099T>C | NP_001122087.1:p.Leu367= | |
| NM_001128616.1:c.1021T>C | NP_001122088.1:p.Leu341= | |
| NM_001289698.1:c.1021T>C | NP_001276627.1:p.Leu341= | |
| NM_019555.2:c.1003T>C | NP_062455.1:p.Leu335= | |
| XM_005265186.3:c.1099T>C | XP_005265243.1:p.Leu367= | |
| XM_005265187.2:c.1099T>C | XP_005265244.1:p.Leu367= | |
| XM_005265188.3:c.1039T>C | XP_005265245.1:p.Leu347= | |
| XM_011533764.1:c.1057T>C | XP_011532066.1:p.Leu353= | |
| XM_011533765.1:c.1006T>C | XP_011532067.1:p.Leu336= | |
| XM_011533766.1:c.1006T>C | XP_011532068.1:p.Leu336= | |
| XM_011533767.1:c.661T>C | XP_011532069.1:p.Leu221= | |
| XM_005265186.5:c.1099T>C | XP_005265243.1:p.Leu367= | |
| XM_005265187.3:c.1099T>C | XP_005265244.1:p.Leu367= | |
| XM_011533766.2:c.1006T>C | XP_011532068.1:p.Leu336= | |
| XM_017006502.1:c.1039T>C | XP_016861991.1:p.Leu347= | |
| XM_017006503.1:c.1099T>C | XP_016861992.1:p.Leu367= | |
| XM_017006504.1:c.1039T>C | XP_016861993.1:p.Leu347= | |
| XM_017006505.1:c.1003T>C | XP_016861994.1:p.Leu335= | |
| XM_017006506.2:c.1021T>C | XP_016861995.1:p.Leu341= | |
| XM_024453546.1:c.1039T>C | XP_024309314.1:p.Leu347= | |
| XM_024453547.1:c.1039T>C | XP_024309315.1:p.Leu347= | |
| NM_001128615.2:c.1099T>C | NP_001122087.1:p.Leu367= | |
| NM_001128616.2:c.1021T>C | NP_001122088.1:p.Leu341= | |
| NM_001289698.2:c.1021T>C | NP_001276627.1:p.Leu341= | |
| NM_001377407.1:c.1099T>C | NP_001364336.1:p.Leu367= | |
| NM_001377408.1:c.1039T>C | NP_001364337.1:p.Leu347= | |
| NM_001377409.1:c.1039T>C | NP_001364338.1:p.Leu347= | |
| NM_001377410.1:c.1039T>C | NP_001364339.1:p.Leu347= | |
| NM_001377411.1:c.1006T>C | NP_001364340.1:p.Leu336= | |
| NM_001377412.1:c.1006T>C | NP_001364341.1:p.Leu336= | |
| NM_001377413.1:c.1021T>C | NP_001364342.1:p.Leu341= | |
| NM_001377414.1:c.1003T>C | NP_001364343.1:p.Leu335= | |
| NM_001377415.1:c.1003T>C | NP_001364344.1:p.Leu335= | |
| NM_019555.3:c.1003T>C MANE Select | NP_062455.1:p.Leu335= |