Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15180239G>C , CM000681.2:g.15180239G>C | GRCh38 |
| NC_000019.9:g.15291050G>C , CM000681.1:g.15291050G>C | GRCh37 |
| NC_000019.8:g.15152050G>C | NCBI36 |
| NG_009819.1:g.25743C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263388.7:c.3160C>G MANE Select | ENSP00000263388.1:p.Leu1054Val | |
| ENST00000263388.6:c.3160C>G | ENSP00000263388.1:p.Leu1054Val | |
| ENST00000601011.1:c.3001C>G | ENSP00000473138.1:p.Leu1001Val | |
| NM_000435.2:c.3160C>G | NP_000426.2:p.Leu1054Val | |
| XM_005259924.3:c.3004C>G | XP_005259981.1:p.Leu1002Val | |
| XM_005259924.4:c.3004C>G | XP_005259981.1:p.Leu1002Val | |
| NM_000435.3:c.3160C>G MANE Select | NP_000426.2:p.Leu1054Val |