Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.19116811T>C , CM000669.2:g.19116811T>C | GRCh38 |
| NC_000007.13:g.19156434T>C , CM000669.1:g.19156434T>C | GRCh37 |
| NC_000007.12:g.19122959T>C | NCBI36 |
| NG_008114.1:g.5862A>G | |
| NG_008114.2:g.5862A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242261.6:c.511A>G MANE Select | ENSP00000242261.5:p.Lys171Glu | |
| ENST00000242261.5:c.511A>G | ENSP00000242261.5:p.Lys171Glu | |
| ENST00000354571.5:c.308A>G | ||
| ENST00000443687.5:c.114A>G | ||
| NM_000474.3:c.511A>G | NP_000465.1:p.Lys171Glu | |
| XM_011515496.1:c.511A>G | XP_011513798.1:p.Lys171Glu | |
| NR_149001.1:n.862A>G | ||
| NM_000474.4:c.511A>G MANE Select | NP_000465.1:p.Lys171Glu | |
| NR_149001.2:n.826A>G |