Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.129814156A>G , CM000671.2:g.129814156A>G | GRCh38 |
| NC_000009.11:g.132576435A>G , CM000671.1:g.132576435A>G | GRCh37 |
| NC_000009.10:g.131616256A>G | NCBI36 |
| NG_008049.1:g.15007T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351698.5:c.815T>C MANE Select | ENSP00000345719.4:p.Leu272Pro | |
| ENST00000651202.1:c.*83T>C | ENSP00000498222.1:n.*83T>C | |
| ENST00000351698.4:c.815T>C | ENSP00000345719.4:p.Leu272Pro | |
| ENST00000474192.1:n.399T>C | ||
| NM_000113.2:c.815T>C | NP_000104.1:p.Leu272Pro | |
| XR_929731.1:n.1142T>C | ||
| XR_929731.3:n.1010T>C | ||
| NM_000113.3:c.815T>C MANE Select | NP_000104.1:p.Leu272Pro |