Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136055716G>C , CM000667.2:g.136055716G>C | GRCh38 |
| NC_000005.9:g.135391405G>C , CM000667.1:g.135391405G>C | GRCh37 |
| NC_000005.8:g.135419304G>C | NCBI36 |
| NG_012646.1:g.31822G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442011.7:c.1447G>C MANE Select | ENSP00000416330.2:p.Asp483His | |
| ENST00000442011.6:c.1447G>C | ENSP00000416330.2:p.Asp483His | |
| ENST00000506699.5:n.1964G>C | ||
| ENST00000507018.5:c.1425G>C | ||
| ENST00000509485.5:c.362G>C | ||
| ENST00000514242.5:n.218G>C | ||
| ENST00000514554.5:c.599G>C | ||
| NM_000358.2:c.1447G>C | NP_000349.1:p.Asp483His | |
| NM_000358.3:c.1447G>C MANE Select | NP_000349.1:p.Asp483His |