Linked Data
dbSNP Id:
rs1439622440
gnomAD v2:
16-27374072-C-T
gnomAD v3:
16-27362751-C-T
gnomAD v4:
16-27362751-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.27362751C>T , CM000678.2:g.27362751C>T | GRCh38 |
| NC_000016.9:g.27374072C>T , CM000678.1:g.27374072C>T | GRCh37 |
| NC_000016.8:g.27281573C>T | NCBI36 |
| NG_012086.1:g.53822C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395762.7:c.1399C>T MANE Select | ENSP00000379111.2:p.Leu467= | |
| ENST00000170630.6:c.1354C>T | ENSP00000170630.3:p.Leu452= | |
| ENST00000395762.6:c.1399C>T | ENSP00000379111.2:p.Leu467= | |
| ENST00000543915.6:c.1399C>T | ENSP00000441667.2:p.Leu467= | |
| ENST00000565352.1:c.230-1352C>T | ENSP00000461268.1:n.230-1352C>T | |
| ENST00000568746.5:c.*1442C>T | ENSP00000455714.1:n.*1442C>T | |
| NM_000418.3:c.1399C>T | NP_000409.1:p.Leu467= | |
| NM_001257406.1:c.1399C>T | NP_001244335.1:p.Leu467= | |
| NM_001257407.1:c.1354C>T | NP_001244336.1:p.Leu452= | |
| NM_001257997.1:c.919C>T | NP_001244926.1:p.Leu307= | |
| XM_005255308.2:c.508C>T | XP_005255365.1:p.Leu170= | |
| XM_006721043.1:c.448C>T | XP_006721106.1:p.Leu150= | |
| XM_011545825.1:c.1399C>T | XP_011544127.1:p.Leu467= | |
| XM_011545826.1:c.1399C>T | XP_011544128.1:p.Leu467= | |
| XM_011545827.1:c.1399C>T | XP_011544129.1:p.Leu467= | |
| XM_011545828.1:c.1132C>T | XP_011544130.1:p.Leu378= | |
| XM_011545829.1:c.1102C>T | XP_011544131.1:p.Leu368= | |
| XM_011545830.1:c.1102C>T | XP_011544132.1:p.Leu368= | |
| XM_011545831.1:c.1102C>T | XP_011544133.1:p.Leu368= | |
| XM_011545832.1:c.1102C>T | XP_011544134.1:p.Leu368= | |
| XM_011545833.1:c.1102C>T | XP_011544135.1:p.Leu368= | |
| XM_011545834.1:c.976C>T | XP_011544136.1:p.Leu326= | |
| XM_011545826.2:c.1399C>T | XP_011544128.1:p.Leu467= | |
| XM_011545827.2:c.1399C>T | XP_011544129.1:p.Leu467= | |
| XM_011545828.2:c.1132C>T | XP_011544130.1:p.Leu378= | |
| XM_011545830.2:c.1102C>T | XP_011544132.1:p.Leu368= | |
| XM_011545833.2:c.1102C>T | XP_011544135.1:p.Leu368= | |
| XM_011545834.2:c.976C>T | XP_011544136.1:p.Leu326= | |
| XM_017023211.1:c.*434C>T | XP_016878700.1:n.*434C>T | |
| NM_000418.4:c.1399C>T MANE Select | NP_000409.1:p.Leu467= | |
| NM_001257406.2:c.1399C>T | NP_001244335.1:p.Leu467= | |
| NM_001257407.2:c.1354C>T | NP_001244336.1:p.Leu452= | |
| NM_001257997.2:c.919C>T | NP_001244926.1:p.Leu307= |