Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.135031347T>G , CM000667.2:g.135031347T>G | GRCh38 |
| NC_000005.9:g.134367037T>G , CM000667.1:g.134367037T>G | GRCh37 |
| NC_000005.8:g.134394936T>G | NCBI36 |
| NG_012114.1:g.7928A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265340.12:c.331A>C MANE Select | ENSP00000265340.6:p.Asn111His | |
| ENST00000265340.11:c.331A>C | ENSP00000265340.6:p.Asn111His | |
| ENST00000502676.1:c.331A>C | ENSP00000423624.1:p.Asn111His | |
| ENST00000503586.1:c.453A>C | ||
| ENST00000504936.1:n.664A>C | ||
| ENST00000506438.5:c.331A>C | ENSP00000427542.1:p.Asn111His | |
| ENST00000507253.5:c.331A>C | ENSP00000422908.1:p.Asn111His | |
| NM_002653.4:c.331A>C | NP_002644.4:p.Asn111His | |
| NM_002653.5:c.331A>C MANE Select | NP_002644.4:p.Asn111His |