Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98541950C>T , CM000671.2:g.98541950C>T | GRCh38 |
| NC_000009.11:g.101304232C>T , CM000671.1:g.101304232C>T | GRCh37 |
| NC_000009.10:g.100344053C>T | NCBI36 |
| NG_016426.1:g.172248G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259455.4:c.553G>A MANE Select | ENSP00000259455.2:p.Ala185Thr | |
| ENST00000637410.1:n.331G>A | ||
| ENST00000637717.1:c.169G>A | ENSP00000490789.1:p.Ala57Thr | |
| ENST00000259455.3:c.553G>A | ENSP00000259455.2:p.Ala185Thr | |
| ENST00000477471.1:n.340G>A | ||
| ENST00000634227.1:n.327G>A | ||
| NM_005458.7:c.553G>A | NP_005449.5:p.Ala185Thr | |
| XM_017015331.2:c.259G>A | XP_016870820.1:p.Ala87Thr | |
| NM_005458.8:c.553G>A MANE Select | NP_005449.5:p.Ala185Thr |