Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.74689396A>T , CM000667.2:g.74689396A>T | GRCh38 |
| NC_000005.9:g.73985221A>T , CM000667.1:g.73985221A>T | GRCh37 |
| NC_000005.8:g.74020977A>T | NCBI36 |
| NG_009770.1:g.9253A>T | |
| NG_009770.2:g.54374A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261416.12:c.368A>T MANE Select | ENSP00000261416.7:p.Gln123Leu | |
| ENST00000261416.11:c.368A>T | ENSP00000261416.7:p.Gln123Leu | |
| ENST00000511181.5:c.-308A>T | ENSP00000426285.1:n.-308A>T | |
| ENST00000513079.5:n.433A>T | ||
| ENST00000515528.1:n.423A>T | ||
| NM_000521.3:c.368A>T | NP_000512.1:p.Gln123Leu | |
| NM_001292004.1:c.-308A>T | NP_001278933.1:n.-308A>T | |
| NM_000521.4:c.368A>T MANE Select | NP_000512.2:p.Gln123Leu | |
| NM_001292004.2:c.-308A>T | NP_001278933.1:n.-308A>T |