Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119414426C>G , CM000665.2:g.119414426C>G | GRCh38 |
| NC_000003.11:g.119133273C>G , CM000665.1:g.119133273C>G | GRCh37 |
| NC_000003.10:g.120615963C>G | NCBI36 |
| NG_007665.2:g.125054C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264245.9:c.2497C>G MANE Select | ENSP00000264245.4:p.Leu833Val | |
| ENST00000264245.8:c.2497C>G | ENSP00000264245.4:p.Leu833Val | |
| NM_020754.3:c.2497C>G | NP_065805.2:p.Leu833Val | |
| XM_005247671.3:c.2404C>G | XP_005247728.1:p.Leu802Val | |
| XM_006713714.2:c.2437C>G | XP_006713777.1:p.Leu813Val | |
| XM_006713714.3:c.2437C>G | XP_006713777.1:p.Leu813Val | |
| XM_017006955.1:c.2005C>G | XP_016862444.1:p.Leu669Val | |
| NM_020754.4:c.2497C>G MANE Select | NP_065805.2:p.Leu833Val |