Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71124312A>T , CM000664.2:g.71124312A>T | GRCh38 |
| NC_000002.11:g.71351442A>T , CM000664.1:g.71351442A>T | GRCh37 |
| NC_000002.10:g.71204950A>T | NCBI36 |
| NG_008977.1:g.10953T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244217.6:c.272T>A MANE Select | ENSP00000244217.5:p.Leu91Gln | |
| ENST00000244217.5:c.272T>A | ENSP00000244217.5:p.Leu91Gln | |
| ENST00000413592.5:c.84+56T>A | ENSP00000391140.1:n.84+56T>A | |
| ENST00000486135.1:c.-14T>A | ENSP00000441569.1:n.-14T>A | |
| ENST00000494660.6:c.-14T>A | ENSP00000437361.1:n.-14T>A | |
| NM_032601.3:c.272T>A | NP_115990.3:p.Leu91Gln | |
| XM_005264613.2:c.216+56T>A | XP_005264670.1:n.216+56T>A | |
| XR_939729.1:n.341T>A | ||
| XR_939729.2:n.341T>A | ||
| NM_032601.4:c.272T>A MANE Select | NP_115990.3:p.Leu91Gln |