Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129814221A>C , CM000671.2:g.129814221A>C | GRCh38 |
| NC_000009.11:g.132576500A>C , CM000671.1:g.132576500A>C | GRCh37 |
| NC_000009.10:g.131616321A>C | NCBI36 |
| NG_008049.1:g.14942T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.750T>G MANE Select | ENSP00000345719.4:p.Ser250Arg | |
| ENST00000651202.1:c.*18T>G | ENSP00000498222.1:n.*18T>G | |
| ENST00000351698.4:c.750T>G | ENSP00000345719.4:p.Ser250Arg | |
| ENST00000474192.1:n.334T>G | ||
| NM_000113.2:c.750T>G | NP_000104.1:p.Ser250Arg | |
| XR_929731.1:n.1077T>G | ||
| XR_929731.3:n.945T>G | ||
| NM_000113.3:c.750T>G MANE Select | NP_000104.1:p.Ser250Arg |