Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7934000C>G , CM000681.2:g.7934000C>G | GRCh38 |
| NC_000019.9:g.7998885C>G , CM000681.1:g.7998885C>G | GRCh37 |
| NC_000019.8:g.7904885C>G | NCBI36 |
| NG_051180.1:g.14824G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270538.8:c.547G>C MANE Select | ENSP00000270538.2:p.Val183Leu | |
| ENST00000270538.7:c.547G>C | ENSP00000270538.2:p.Val183Leu | |
| ENST00000595831.5:c.534G>C | ||
| ENST00000595876.5:c.*235G>C | ENSP00000471596.1:n.*235G>C | |
| ENST00000597926.1:c.451G>C | ENSP00000469389.1:p.Val151Leu | |
| ENST00000600748.5:n.532G>C | ||
| NM_006351.3:c.547G>C | NP_006342.2:p.Val183Leu | |
| NM_006351.4:c.547G>C MANE Select | NP_006342.2:p.Val183Leu |