Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52029804C>G , CM000666.2:g.52029804C>G | GRCh38 |
| NC_000004.11:g.52895970C>G , CM000666.1:g.52895970C>G | GRCh37 |
| NC_000004.10:g.52590727C>G | NCBI36 |
| NG_008891.1:g.13516G>C , LRG_204:g.13516G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381431.10:c.303G>C MANE Select | ENSP00000370839.6:p.Glu101Asp | |
| ENST00000381431.9:c.303G>C | ENSP00000370839.5:p.Glu101Asp | |
| ENST00000506357.5:c.386G>C | ||
| ENST00000514133.1:c.380G>C | ENSP00000425818.1:n.380G>C | |
| NM_000232.4:c.303G>C , LRG_204t1:c.303G>C | NP_000223.1:p.Glu101Asp | |
| XM_006714049.2:c.6G>C | XP_006714112.1:p.Glu2Asp | |
| XM_011534403.1:c.93G>C | XP_011532705.1:p.Glu31Asp | |
| XM_011534404.1:c.6G>C | XP_011532706.1:p.Glu2Asp | |
| NM_000232.5:c.303G>C MANE Select | NP_000223.1:p.Glu101Asp |