Linked Data
ClinVar Variation Id:
825718
ClinVar RCV Id:
RCV001024074
dbSNP Id:
rs1565183490
gnomAD v4:
11-67490110-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67490110C>T , CM000673.2:g.67490110C>T | GRCh38 |
| NC_000011.9:g.67257581C>T , CM000673.1:g.67257581C>T | GRCh37 |
| NC_000011.8:g.67014157C>T | NCBI36 |
| NG_008969.1:g.12077C>T , LRG_460:g.12077C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525341.2:c.518C>T | ||
| ENST00000528641.7:c.352C>T | ENSP00000434982.3:p.Leu118Phe | |
| ENST00000529797.2:n.1053C>T | ||
| ENST00000682324.1:c.468+655C>T | ENSP00000508017.1:n.468+655C>T | |
| ENST00000682659.1:c.172C>T | ENSP00000507351.1:p.Leu58Phe | |
| ENST00000682699.1:c.541C>T | ENSP00000507935.1:p.Leu181Phe | |
| ENST00000683237.1:c.541C>T | ENSP00000507343.1:p.Leu181Phe | |
| ENST00000683856.1:c.364C>T | ENSP00000507979.1:p.Leu122Phe | |
| ENST00000684006.1:c.541C>T | ENSP00000507269.1:p.Leu181Phe | |
| ENST00000684657.1:c.361C>T | ENSP00000507961.1:p.Leu121Phe | |
| ENST00000279146.8:c.541C>T MANE Select | ENSP00000279146.3:p.Leu181Phe | |
| ENST00000279146.7:c.541C>T | ENSP00000279146.3:p.Leu181Phe | |
| ENST00000525341.1:c.193C>T | ENSP00000476993.1:p.Leu65Phe | |
| ENST00000528641.6:c.352C>T | ENSP00000434982.2:p.Leu118Phe | |
| NM_001302959.1:c.364C>T | NP_001289888.1:p.Leu122Phe | |
| NM_001302960.1:c.541C>T | NP_001289889.1:p.Leu181Phe | |
| NM_003977.3:c.541C>T | NP_003968.3:p.Leu181Phe | |
| XM_024448761.1:c.541C>T | XP_024304529.1:p.Leu181Phe | |
| NM_003977.4:c.541C>T MANE Select | NP_003968.3:p.Leu181Phe | |
| NM_001302960.2:c.541C>T | NP_001289889.1:p.Leu181Phe | |
| NM_001302959.2:c.364C>T | NP_001289888.1:p.Leu122Phe |