Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.136659386T>C , CM000685.2:g.136659386T>C | GRCh38 |
| NC_000023.10:g.135741545T>C , CM000685.1:g.135741545T>C | GRCh37 |
| NC_000023.9:g.135569211T>C | NCBI36 |
| NG_007280.1:g.16210T>C , LRG_141:g.16210T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695724.1:c.*375T>C | ENSP00000512122.1:n.*375T>C | |
| ENST00000695725.1:c.*312T>C | ENSP00000512123.1:n.*312T>C | |
| ENST00000695726.1:n.2725T>C | ||
| ENST00000695729.1:n.3560T>C | ||
| ENST00000370629.7:c.757T>C MANE Select | ENSP00000359663.2:p.Phe253Leu | |
| ENST00000370628.2:c.694T>C | ENSP00000359662.2:p.Phe232Leu | |
| ENST00000370629.6:c.757T>C | ENSP00000359663.2:p.Phe253Leu | |
| NM_000074.2:c.757T>C , LRG_141t1:c.757T>C | NP_000065.1:p.Phe253Leu | |
| NM_000074.3:c.757T>C MANE Select | NP_000065.1:p.Phe253Leu |