Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.72891529G>C , CM000664.2:g.72891529G>C | GRCh38 |
| NC_000002.11:g.73118658G>C , CM000664.1:g.73118658G>C | GRCh37 |
| NC_000002.10:g.72972166G>C | NCBI36 |
| NG_008234.1:g.9147G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234454.6:c.778G>C MANE Select | ENSP00000234454.5:p.Asp260His | |
| ENST00000234454.5:c.778G>C | ENSP00000234454.5:p.Asp260His | |
| ENST00000498749.1:n.723G>C | ||
| NM_003124.4:c.778G>C | NP_003115.1:p.Asp260His | |
| NM_003124.5:c.778G>C MANE Select | NP_003115.1:p.Asp260His |