Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32475111A>C , CM000684.2:g.32475111A>C | GRCh38 |
| NC_000022.10:g.32871098A>C , CM000684.1:g.32871098A>C | GRCh37 |
| NC_000022.9:g.31201098A>C | NCBI36 |
| NG_016001.1:g.5392A>C | |
| NG_016001.2:g.5392A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266087.12:c.109A>C MANE Select | ENSP00000266087.7:p.Thr37Pro | |
| ENST00000266087.11:c.109A>C | ENSP00000266087.7:p.Thr37Pro | |
| ENST00000420700.5:c.109A>C | ENSP00000406155.1:p.Thr37Pro | |
| ENST00000425028.5:c.109A>C | ENSP00000395823.1:p.Thr37Pro | |
| ENST00000492535.1:n.97A>C | ||
| NM_012179.3:c.109A>C | NP_036311.3:p.Thr37Pro | |
| XM_011530106.1:c.-65A>C | XP_011528408.1:n.-65A>C | |
| XM_024452207.1:c.-82A>C | XP_024307975.1:n.-82A>C | |
| NM_012179.4:c.109A>C MANE Select | NP_036311.3:p.Thr37Pro |