Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129813977C>G , CM000671.2:g.129813977C>G | GRCh38 |
| NC_000009.11:g.132576256C>G , CM000671.1:g.132576256C>G | GRCh37 |
| NC_000009.10:g.131616077C>G | NCBI36 |
| NG_008049.1:g.15186G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000351698.5:c.994G>C MANE Select | ENSP00000345719.4:p.Asp332His | |
| ENST00000651202.1:c.*262G>C | ENSP00000498222.1:n.*262G>C | |
| ENST00000351698.4:c.994G>C | ENSP00000345719.4:p.Asp332His | |
| ENST00000474192.1:n.578G>C | ||
| NM_000113.2:c.994G>C | NP_000104.1:p.Asp332His | |
| XR_929731.3:n.1189G>C | ||
| NM_000113.3:c.994G>C MANE Select | NP_000104.1:p.Asp332His |