Linked Data
ClinVar Variation Id:
954536
dbSNP Id:
rs777083581
ExAC:
11:67250702 C / T
gnomAD v2:
11-67250702-C-T
gnomAD v3:
11-67483231-C-T
gnomAD v4:
11-67483231-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67483231C>T , CM000673.2:g.67483231C>T | GRCh38 |
| NC_000011.9:g.67250702C>T , CM000673.1:g.67250702C>T | GRCh37 |
| NC_000011.8:g.67007278C>T | NCBI36 |
| NG_008969.1:g.5198C>T , LRG_460:g.5198C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525341.2:c.50C>T | ||
| ENST00000528641.7:c.73C>T | ENSP00000434982.3:p.Leu25Phe | |
| ENST00000529797.2:n.3C>T | ||
| ENST00000682324.1:c.73C>T | ENSP00000508017.1:p.Leu25Phe | |
| ENST00000682659.1:c.73C>T | ENSP00000507351.1:p.Leu25Phe | |
| ENST00000682699.1:c.73C>T | ENSP00000507935.1:p.Leu25Phe | |
| ENST00000683237.1:c.73C>T | ENSP00000507343.1:p.Leu25Phe | |
| ENST00000684006.1:c.73C>T | ENSP00000507269.1:p.Leu25Phe | |
| ENST00000684657.1:c.73C>T | ENSP00000507961.1:p.Leu25Phe | |
| ENST00000279146.8:c.73C>T MANE Select | ENSP00000279146.3:p.Leu25Phe | |
| ENST00000279146.7:c.73C>T | ENSP00000279146.3:p.Leu25Phe | |
| ENST00000528641.6:c.73C>T | ENSP00000434982.2:p.Leu25Phe | |
| ENST00000529797.1:n.183C>T | ||
| NM_001302960.1:c.73C>T | NP_001289889.1:p.Leu25Phe | |
| NM_003977.3:c.73C>T | NP_003968.3:p.Leu25Phe | |
| XM_024448761.1:c.73C>T | XP_024304529.1:p.Leu25Phe | |
| NM_003977.4:c.73C>T MANE Select | NP_003968.3:p.Leu25Phe | |
| NM_001302960.2:c.73C>T | NP_001289889.1:p.Leu25Phe |