Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.196995829T>G , CM000663.2:g.196995829T>G | GRCh38 |
| NC_000001.10:g.196964959T>G , CM000663.1:g.196964959T>G | GRCh37 |
| NC_000001.9:g.195231582T>G | NCBI36 |
| NG_016365.1:g.23293T>G , LRG_227:g.23293T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699466.1:c.465T>G | ENSP00000514393.1:p.Asn155Lys | |
| ENST00000699467.1:n.789T>G | ||
| ENST00000699468.1:c.-24-285T>G | ENSP00000514394.1:n.-24-285T>G | |
| ENST00000256785.5:c.720T>G MANE Select | ENSP00000256785.4:p.Asn240Lys | |
| ENST00000256785.4:c.720T>G | ENSP00000256785.4:p.Asn240Lys | |
| NM_030787.3:c.720T>G , LRG_227t1:c.720T>G | NP_110414.1:p.Asn240Lys | |
| XM_011510020.1:c.729T>G | XP_011508322.1:p.Asn243Lys | |
| XM_011510020.2:c.729T>G | XP_011508322.1:p.Asn243Lys | |
| NM_030787.4:c.720T>G MANE Select | NP_110414.1:p.Asn240Lys |