Linked Data
dbSNP Id:
rs769513206
ExAC:
11:67254639 T / C
gnomAD v2:
11-67254639-T-C
gnomAD v4:
11-67487168-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67487168T>C , CM000673.2:g.67487168T>C | GRCh38 |
| NC_000011.9:g.67254639T>C , CM000673.1:g.67254639T>C | GRCh37 |
| NC_000011.8:g.67011215T>C | NCBI36 |
| NG_008969.1:g.9135T>C , LRG_460:g.9135T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000525341.2:c.239T>C | ||
| ENST00000528641.7:c.262T>C | ENSP00000434982.3:p.Phe88Leu | |
| ENST00000529797.2:n.192T>C | ||
| ENST00000682324.1:c.262T>C | ENSP00000508017.1:p.Phe88Leu | |
| ENST00000682659.1:c.100-2870T>C | ENSP00000507351.1:n.100-2870T>C | |
| ENST00000682699.1:c.262T>C | ENSP00000507935.1:p.Phe88Leu | |
| ENST00000683237.1:c.262T>C | ENSP00000507343.1:p.Phe88Leu | |
| ENST00000683856.1:c.85T>C | ENSP00000507979.1:p.Phe29Leu | |
| ENST00000684006.1:c.262T>C | ENSP00000507269.1:p.Phe88Leu | |
| ENST00000684657.1:c.100-2099T>C | ENSP00000507961.1:n.100-2099T>C | |
| ENST00000279146.8:c.262T>C MANE Select | ENSP00000279146.3:p.Phe88Leu | |
| ENST00000279146.7:c.262T>C | ENSP00000279146.3:p.Phe88Leu | |
| ENST00000528641.6:c.262T>C | ENSP00000434982.2:p.Phe88Leu | |
| ENST00000529797.1:n.372T>C | ||
| NM_001302959.1:c.85T>C | NP_001289888.1:p.Phe29Leu | |
| NM_001302960.1:c.262T>C | NP_001289889.1:p.Phe88Leu | |
| NM_003977.3:c.262T>C | NP_003968.3:p.Phe88Leu | |
| XM_024448761.1:c.262T>C | XP_024304529.1:p.Phe88Leu | |
| NM_003977.4:c.262T>C MANE Select | NP_003968.3:p.Phe88Leu | |
| NM_001302960.2:c.262T>C | NP_001289889.1:p.Phe88Leu | |
| NM_001302959.2:c.85T>C | NP_001289888.1:p.Phe29Leu |