Linked Data
ClinVar Variation Id:
445731
dbSNP Id:
rs78141380
ExAC:
1:65855298 C / T
gnomAD v2:
1-65855298-C-T
gnomAD v3:
1-65389615-C-T
gnomAD v4:
1-65389615-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.65389615C>T , CM000663.2:g.65389615C>T | GRCh38 |
| NC_000001.10:g.65855298C>T , CM000663.1:g.65855298C>T | GRCh37 |
| NC_000001.9:g.65627886C>T | NCBI36 |
| NG_033843.1:g.129922C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371069.5:c.1456C>T MANE Select | ENSP00000360108.4:p.Leu486Phe | |
| ENST00000263441.11:c.1246C>T | ENSP00000263441.7:p.Leu416Phe | |
| ENST00000371069.4:c.1456C>T | ENSP00000360108.4:p.Leu486Phe | |
| ENST00000395325.7:c.1285C>T | ENSP00000378735.3:p.Leu429Phe | |
| ENST00000494710.6:c.1378C>T | ENSP00000473821.1:p.Leu460Phe | |
| NM_001256864.1:c.1456C>T | NP_001243793.1:p.Leu486Phe | |
| NM_001256865.1:c.1246C>T | NP_001243794.1:p.Leu416Phe | |
| NM_014787.3:c.1285C>T | NP_055602.1:p.Leu429Phe | |
| XM_011542483.1:c.1405C>T | XP_011540785.1:p.Leu469Phe | |
| XM_011542484.1:c.1378C>T | XP_011540786.1:p.Leu460Phe | |
| XM_011542485.1:c.1291C>T | XP_011540787.1:p.Leu431Phe | |
| XM_011542486.1:c.1246C>T | XP_011540788.1:p.Leu416Phe | |
| XM_011542487.1:c.1246C>T | XP_011540789.1:p.Leu416Phe | |
| XM_011542488.1:c.1246C>T | XP_011540790.1:p.Leu416Phe | |
| XM_011542489.1:c.811C>T | XP_011540791.1:p.Leu271Phe | |
| NM_001256864.2:c.1456C>T MANE Select | NP_001243793.1:p.Leu486Phe | |
| NM_014787.4:c.1285C>T | NP_055602.1:p.Leu429Phe | |
| NM_001256865.2:c.1246C>T | NP_001243794.1:p.Leu416Phe |