Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67939983T>G , CM000678.2:g.67939983T>G | GRCh38 |
| NC_000016.9:g.67973886T>G , CM000678.1:g.67973886T>G | GRCh37 |
| NC_000016.8:g.66531387T>G | NCBI36 |
| NG_009778.1:g.9130A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.1244A>C MANE Select | ENSP00000264005.5:p.Asn415Thr | |
| ENST00000264005.9:c.1244A>C | ENSP00000264005.5:p.Asn415Thr | |
| ENST00000570369.5:c.247A>C | ||
| ENST00000573538.5:c.982A>C | ENSP00000463220.1:n.982A>C | |
| NM_000229.1:c.1244A>C | NP_000220.1:p.Asn415Thr | |
| NM_000229.2:c.1244A>C MANE Select | NP_000220.1:p.Asn415Thr |