Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.98542019C>G , CM000671.2:g.98542019C>G | GRCh38 |
| NC_000009.11:g.101304301C>G , CM000671.1:g.101304301C>G | GRCh37 |
| NC_000009.10:g.100344122C>G | NCBI36 |
| NG_016426.1:g.172179G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259455.4:c.484G>C MANE Select | ENSP00000259455.2:p.Val162Leu | |
| ENST00000637410.1:n.262G>C | ||
| ENST00000637717.1:c.100G>C | ENSP00000490789.1:p.Val34Leu | |
| ENST00000638001.1:n.94G>C | ||
| ENST00000259455.3:c.484G>C | ENSP00000259455.2:p.Val162Leu | |
| ENST00000477471.1:n.271G>C | ||
| ENST00000634227.1:n.258G>C | ||
| NM_005458.7:c.484G>C | NP_005449.5:p.Val162Leu | |
| XM_017015331.2:c.190G>C | XP_016870820.1:p.Val64Leu | |
| NM_005458.8:c.484G>C MANE Select | NP_005449.5:p.Val162Leu |