Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98541874T>G , CM000671.2:g.98541874T>G | GRCh38 |
| NC_000009.11:g.101304156T>G , CM000671.1:g.101304156T>G | GRCh37 |
| NC_000009.10:g.100343977T>G | NCBI36 |
| NG_016426.1:g.172324A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259455.4:c.629A>C MANE Select | ENSP00000259455.2:p.Glu210Ala | |
| ENST00000637410.1:n.407A>C | ||
| ENST00000259455.3:c.629A>C | ENSP00000259455.2:p.Glu210Ala | |
| ENST00000477471.1:n.416A>C | ||
| ENST00000634227.1:n.403A>C | ||
| NM_005458.7:c.629A>C | NP_005449.5:p.Glu210Ala | |
| XM_017015331.2:c.335A>C | XP_016870820.1:p.Glu112Ala | |
| NM_005458.8:c.629A>C MANE Select | NP_005449.5:p.Glu210Ala |