Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.18130679T>G , CM000668.2:g.18130679T>G | GRCh38 |
| NC_000006.11:g.18130910T>G , CM000668.1:g.18130910T>G | GRCh37 |
| NC_000006.10:g.18238889T>G | NCBI36 |
| NG_012137.2:g.29465A>C | |
| NG_012137.3:g.29465A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309983.5:c.727A>C MANE Select | ENSP00000312304.4:p.Thr243Pro | |
| ENST00000309983.4:c.727A>C | ENSP00000312304.4:p.Thr243Pro | |
| NM_000367.3:c.727A>C | NP_000358.1:p.Thr243Pro | |
| XM_011514839.1:c.682A>C | XP_011513141.1:p.Thr228Pro | |
| XM_011514840.1:c.658A>C | XP_011513142.1:p.Thr220Pro | |
| NM_000367.4:c.727A>C | NP_000358.1:p.Thr243Pro | |
| NM_001346817.1:c.727A>C | NP_001333746.1:p.Thr243Pro | |
| NM_001346818.1:c.682A>C | NP_001333747.1:p.Thr228Pro | |
| NM_000367.5:c.727A>C MANE Select | NP_000358.1:p.Thr243Pro |