Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151259915A>C , CM000667.2:g.151259915A>C | GRCh38 |
| NC_000005.9:g.150639476A>C , CM000667.1:g.150639476A>C | GRCh37 |
| NC_000005.8:g.150619669A>C | NCBI36 |
| NG_009059.1:g.11864A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357164.4:c.242A>C MANE Select | ENSP00000349687.3:p.Lys81Thr | |
| ENST00000357164.3:c.242A>C | ENSP00000349687.3:p.Lys81Thr | |
| ENST00000523004.1:c.117A>C | ||
| ENST00000523466.5:c.287A>C | ENSP00000429100.1:p.Lys96Thr | |
| NM_000405.4:c.242A>C | NP_000396.2:p.Lys81Thr | |
| NM_001167607.1:c.242A>C | NP_001161079.1:p.Lys81Thr | |
| NM_000405.5:c.242A>C MANE Select | NP_000396.2:p.Lys81Thr | |
| NM_001167607.2:c.242A>C | NP_001161079.1:p.Lys81Thr | |
| NM_001167607.3:c.242A>C | NP_001161079.1:p.Lys81Thr |