Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154860497A>C , CM000685.2:g.154860497A>C | GRCh38 |
| NC_000023.10:g.154088772A>C , CM000685.1:g.154088772A>C | GRCh37 |
| NC_000023.9:g.153741966A>C | NCBI36 |
| NG_011403.1:g.167227T>G | |
| NG_011403.2:g.167227T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.6835T>G MANE Select | ENSP00000353393.4:p.Phe2279Val | |
| ENST00000644698.1:c.568T>G | ENSP00000495706.1:p.Phe190Val | |
| ENST00000330287.10:c.430T>G | ENSP00000327895.6:p.Phe144Val | |
| ENST00000360256.8:c.6835T>G | ENSP00000353393.4:p.Phe2279Val | |
| NM_000132.3:c.6835T>G | NP_000123.1:p.Phe2279Val | |
| NM_019863.2:c.430T>G | NP_063916.1:p.Phe144Val | |
| XM_011531126.1:c.6730T>G | XP_011529428.1:p.Phe2244Val | |
| NM_000132.4:c.6835T>G MANE Select | NP_000123.1:p.Phe2279Val | |
| NM_019863.3:c.430T>G | NP_063916.1:p.Phe144Val |