Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.74685310T>G , CM000667.2:g.74685310T>G | GRCh38 |
| NC_000005.9:g.73981135T>G , CM000667.1:g.73981135T>G | GRCh37 |
| NC_000005.8:g.74016891T>G | NCBI36 |
| NG_009770.1:g.5167T>G | |
| NG_009770.2:g.50288T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261416.12:c.50T>G MANE Select | ENSP00000261416.7:p.Leu17Arg | |
| ENST00000261416.11:c.50T>G | ENSP00000261416.7:p.Leu17Arg | |
| ENST00000511181.5:c.-376-4018T>G | ENSP00000426285.1:n.-376-4018T>G | |
| ENST00000513079.5:n.115T>G | ||
| ENST00000515528.1:n.105T>G | ||
| NM_000521.3:c.50T>G | NP_000512.1:p.Leu17Arg | |
| NM_001292004.1:c.-376-4018T>G | NP_001278933.1:n.-376-4018T>G | |
| NM_000521.4:c.50T>G MANE Select | NP_000512.2:p.Leu17Arg | |
| NM_001292004.2:c.-376-4018T>G | NP_001278933.1:n.-376-4018T>G |