Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98541955T>A , CM000671.2:g.98541955T>A | GRCh38 |
| NC_000009.11:g.101304237T>A , CM000671.1:g.101304237T>A | GRCh37 |
| NC_000009.10:g.100344058T>A | NCBI36 |
| NG_016426.1:g.172243A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259455.4:c.548A>T MANE Select | ENSP00000259455.2:p.Asn183Ile | |
| ENST00000637410.1:n.326A>T | ||
| ENST00000637717.1:c.164A>T | ENSP00000490789.1:p.Asn55Ile | |
| ENST00000259455.3:c.548A>T | ENSP00000259455.2:p.Asn183Ile | |
| ENST00000477471.1:n.335A>T | ||
| ENST00000634227.1:n.322A>T | ||
| NM_005458.7:c.548A>T | NP_005449.5:p.Asn183Ile | |
| XM_017015331.2:c.254A>T | XP_016870820.1:p.Asn85Ile | |
| NM_005458.8:c.548A>T MANE Select | NP_005449.5:p.Asn183Ile |